Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA): description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change: description of variant at RNA level (following HGVS recommendations).
- r.123c>u
- r.? = unknown
- r.(?) = RNA not analysed but probably transcribed copy of DNA variant
- r.spl? = RNA not analysed but variant probably affects splicing
- r.(spl?) = RNA not analysed but variant may affect splicing
- r.0? = change expected to abolish transcription
Protein: description of variant at protein level (following HGVS recommendations).
- p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
- p.Arg345Pro = change derived from RNA analysis
- p.? = unknown effect
- p.0? = probably no protein produced
P-domain: region/domain protein affected
Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method: The method used for the clinical classification of this variant.
All options:
- ACMG
- ACGS
- EAHAD-CFDB
- ENIGMA
- IARC
- InSiGHT
- kConFab
- other
Clinical classification: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
- pathogenic
- pathogenic (dominant)
- pathogenic (recessive)
- pathogenic (!)
- pathogenic (maternal)
- pathogenic (paternal)
- likely pathogenic
- likely pathogenic (dominant)
- likely pathogenic (recessive)
- likely pathogenic (!)
- likely pathogenic (maternal)
- likely pathogenic (paternal)
- VUS
- VUS (!)
- likely benign
- likely benign (dominant)
- likely benign (recessive)
- likely benign (!)
- likely benign (maternal)
- likely benign (paternal)
- benign
- benign (dominant)
- benign (recessive)
- benign (!)
- benign (maternal)
- benign (paternal)
- conflicting
- association
- NA
DNA change (genomic) (hg19): HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38): HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN: description of the variant according to ISCN nomenclature
DB-ID: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID: ID of variant in ClinVar database
dbSNP ID: the dbSNP ID
Origin: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
- Germline
- De novo
- Germline/De novo (untested)
- Somatic
- Uniparental disomy
- Uniparental disomy, maternal allele
- Uniparental disomy, paternal allele
- CLASSIFICATION record
- SUMMARY record
- In vitro (cloned)
- In silico
- animal model
- Artefact
- DUPLICATE record
- Unknown
- Not applicable
Segregation: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
- ? = unknown
- yes = segregates with phenotype
- no = does not segregate with phenotype
- - = not applicable
Frequency: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Methylation: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
- DNA
- RNA = RNA (cDNA)
- protein
- ? = unknown
Technique: technique(s) used to identify the sequence variant.
All options:
- ? = unknown
- ARMS = amplification refractory mutation system
- arrayCGH = array for Comparative Genomic Hybridisation
- arrayMET = array for methylation analysis
- arraySEQ = array for resequencing
- arraySNP = array for SNP typing
- arrayCNV = array for Copy Number Variation (SNP and CNV probes)
- ASO = allele-specific oligo hybridisation
- BESS = Base Excision Sequence Scanning
- CMC = Chemical Mismatch Cleavage
- COBRA = Combined Bisulfite Restriction Analysis
- CSCE = Conformation Sensitive Capillary Electrophoresis
- CSGE = Conformation Sensitive Gel Electrophoresis
- ddF = dideoxy Fingerprinting
- DGGE = Denaturing-Gradient Gel-Electrophoresis
- DHPLC = Denaturing High-Performance Liquid Chromatography
- DOVAM = Detection Of Virtually All Mutations (SSCA variant)
- DSCA = Double-Strand DNA Conformation Analysis
- DSDI = Detection Small Deletions and Insertions
- EMC = Enzymatic Mismatch Cleavage
- expr = expression analysis
- FISH = Fluorescent In-Situ Hybridisation
- FISHf = fiberFISH
- HD = HeteroDuplex analysis
- HPLC = High-Performance Liquid Chromatography
- IEF = IsoElectric Focussing
- IHC = Immuno-Histo-Chemistry
- Invader = Invader assay
- MAPH = Multiplex Amplifiable Probe Hybridisation
- MAQ = Multiplex Amplicon Quantification
- MCA = Melting Curve Analysis, high-resolution (HRMA)
- microscope = microscopic analysis (karyotype)
- microsat = microsatellite genotyping
- minigene = expression minigene construct
- MIP = Molecular Inversion Probe amplification
- MIPsm = single molecule Molecular Inversion Probe amplification
- MLPA = Multiplex Ligation-dependent Probe Amplification
- MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
- MS = mass spectrometry
- Northern = Northern blotting
- NUC = nuclease digestion (RNAseT1, S1)
- OM = optical mapping
- PAGE = Poly-Acrylamide Gel-Electrophoresis
- PCR = Polymerase Chain Reaction
- PCRdd = PCR, digital droplet
- PCRdig = PCR + restriction enzyme digestion
- PCRh = PCR, haloplex
- PCRlr = PCR, long-range
- PCRm = PCR, multiplex
- PCRms = PCR, methylation sensitive
- PCRq = PCR, quantitative (qPCR)
- PCRrp = PCR, repeat-primed (RP-PCR)
- PCRsqd = PCR, semi-quantitative duplex
- PE = primer extension (APEX, SNaPshot)
- PEms = primer extension, methylation-sensitive single-nucleotide
- PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
- PTT = Protein Truncation Test
- RFLP = Restriction Fragment Length Polymorphisms
- RT-PCR = Reverse Transcription and PCR
- RT-PCRq = Reverse Transcription and PCR, quantitative
- SBE = Single Base Extension
- SEQ = SEQuencing (Sanger)
- SEQb = bisulfite SEQuencing
- SEQp = pyroSequencing
- SEQms = sequencing, methylation specific
- SEQ-ON = next-generation sequencing - Oxford Nanopore
- SEQ-NG = next-generation sequencing
- SEQ-NG-RNA = next-generation sequencing RNA
- SEQ-NG-H = next-generation sequencing - Helicos
- SEQ-NG-I = next-generation sequencing - Illumina/Solexa
- SEQ-NG-IT = next-generation sequencing - Ion Torrent
- SEQ-NG-R = next-generation sequencing - Roche/454
- SEQ-NG-S = next-generation sequencing - SOLiD
- SEQ-PB = next-generation sequencing - Pacific Biosciences
- SNPlex = SNPlex
- Southern = Southern blotting
- SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
- SSCAf = fluorescent SSCA (SSCP)
- STR = Short Tandem Repeat
- TaqMan = TaqMan assay
- Western = Western blotting
- - = not applicable
Tissue: tissue type used for analysis
Remarks: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks: remarks about the individual
Gender: gender individual
All options:
- ? = unknown
- - = not applicable
- F = female
- M = male
- rF = raised as female
- rM = raised as male
Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
- no = non-consanguineous parents
- yes = consanguineous parents
- likely = consanguinity likely
- ? = unknown
- - = not applicable
Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
- ? (unknown)
- - (not applicable)
- Afghanistan
- (Afghanistan)
- Albania
- (Albania)
- Algeria
- (Algeria)
- American Samoa
- (American Samoa)
- Andorra
- (Andorra)
- Angola
- (Angola)
- Anguilla
- (Anguilla)
- Antarctica
- (Antarctica)
- Antigua and Barbuda
- (Antigua and Barbuda)
- Argentina
- (Argentina)
- Armenia
- (Armenia)
- Aruba
- (Aruba)
- Australia
- (Australia)
- Austria
- (Austria)
- Azerbaijan
- (Azerbaijan)
- Bahamas
- (Bahamas)
- Bahrain
- (Bahrain)
- Bangladesh
- (Bangladesh)
- Barbados
- (Barbados)
- Belarus
- (Belarus)
- Belgium
- (Belgium)
- Belize
- (Belize)
- Benin
- (Benin)
- Bermuda
- (Bermuda)
- Bhutan
- (Bhutan)
- Bolivia
- (Bolivia)
- Bosnia and Herzegovina
- (Bosnia and Herzegovina)
- Botswana
- (Botswana)
- Bouvet Island
- (Bouvet Island)
- Brazil
- (Brazil)
- British Indian Ocean Territory
- (British Indian Ocean Territory)
- Brunei Darussalam
- (Brunei Darussalam)
- Bulgaria
- (Bulgaria)
- Burkina Faso
- (Burkina Faso)
- Burundi
- (Burundi)
- Cambodia
- (Cambodia)
- Cameroon
- (Cameroon)
- Canada
- (Canada)
- Cape Verde
- (Cape Verde)
- Cayman Islands
- (Cayman Islands)
- Central African Republic
- (Central African Republic)
- Central Europe
- Chad
- (Chad)
- Chile
- (Chile)
- China
- (China)
- Christmas Island
- (Christmas Island)
- Cocos (Keeling Islands)
- (Cocos (Keeling Islands))
- Colombia
- (Colombia)
- Comoros
- (Comoros)
- Congo
- (Congo)
- Cook Islands
- (Cook Islands)
- Costa Rica
- (Costa Rica)
- Cote D'Ivoire (Ivory Coast)
- (Cote D'Ivoire (Ivory Coast))
- Croatia (Hrvatska)
- (Croatia (Hrvatska))
- Cuba
- (Cuba)
- Cyprus
- (Cyprus)
- Czech Republic
- (Czech Republic)
- Denmark
- (Denmark)
- Djibouti
- (Djibouti)
- Dominica
- (Dominica)
- Dominican Republic
- (Dominican Republic)
- East Timor
- (East Timor)
- Ecuador
- (Ecuador)
- Egypt
- (Egypt)
- El Salvador
- (El Salvador)
- England
- (England)
- Equatorial Guinea
- (Equatorial Guinea)
- Eritrea
- (Eritrea)
- Estonia
- (Estonia)
- Ethiopia
- (Ethiopia)
- Falkland Islands (Malvinas)
- (Falkland Islands (Malvinas))
- Faroe Islands
- (Faroe Islands)
- Fiji
- (Fiji)
- Finland
- (Finland)
- France
- (France)
- Gabon
- (Gabon)
- Gambia
- (Gambia)
- Georgia
- (Georgia)
- Germany
- (Germany)
- Ghana
- (Ghana)
- Gibraltar
- (Gibraltar)
- Greece
- (Greece)
- Greenland
- (Greenland)
- Grenada
- (Grenada)
- Guadeloupe
- (Guadeloupe)
- Guam
- (Guam)
- Guatemala
- (Guatemala)
- Guiana, French
- (Guiana, French)
- Guinea
- (Guinea)
- Guinea-Bissau
- (Guinea-Bissau)
- Guyana
- (Guyana)
- Haiti
- (Haiti)
- Heard and McDonald Islands
- (Heard and McDonald Islands)
- Honduras
- (Honduras)
- Hong Kong
- (Hong Kong)
- Hungary
- (Hungary)
- Iceland
- (Iceland)
- India
- (India)
- Indonesia
- (Indonesia)
- Iran
- (Iran)
- Iraq
- (Iraq)
- Ireland
- (Ireland)
- Israel
- (Israel)
- Italy
- (Italy)
- Jamaica
- (Jamaica)
- Japan
- (Japan)
- Jordan
- (Jordan)
- Kazakhstan
- (Kazakhstan)
- Kenya
- (Kenya)
- Kiribati
- (Kiribati)
- Korea
- (Korea)
- Korea, North (People's Republic)
- (Korea, North (People's Republic))
- Korea, South (Republic)
- (Korea, South (Republic))
- Kosovo
- (Kosovo)
- Kuwait
- (Kuwait)
- Kyrgyzstan (Kyrgyz Republic)
- (Kyrgyzstan (Kyrgyz Republic))
- Laos
- (Laos)
- Latvia
- (Latvia)
- Lebanon
- (Lebanon)
- Lesotho
- (Lesotho)
- Liberia
- (Liberia)
- Libya
- (Libya)
- Liechtenstein
- (Liechtenstein)
- Lithuania
- (Lithuania)
- Luxembourg
- (Luxembourg)
- Macau
- (Macau)
- Macedonia
- (Macedonia)
- Madagascar
- (Madagascar)
- Malawi
- (Malawi)
- Malaysia
- (Malaysia)
- Maldives
- (Maldives)
- Mali
- (Mali)
- Mallorca
- (Mallorca)
- Malta
- (Malta)
- Marshall Islands
- (Marshall Islands)
- Martinique
- (Martinique)
- Mauritania
- (Mauritania)
- Mauritius
- (Mauritius)
- Mayotte
- (Mayotte)
- Mexico
- (Mexico)
- Micronesia
- (Micronesia)
- Moldova
- (Moldova)
- Monaco
- (Monaco)
- Mongolia
- (Mongolia)
- Montserrat
- (Montserrat)
- Morocco
- (Morocco)
- Mozambique
- (Mozambique)
- Myanmar
- (Myanmar)
- Namibia
- (Namibia)
- Nauru
- (Nauru)
- Nepal
- (Nepal)
- Netherlands
- (Netherlands)
- Netherlands Antilles
- (Netherlands Antilles)
- Neutral Zone (Saudia Arabia/Iraq)
- (Neutral Zone (Saudia Arabia/Iraq))
- New Caledonia
- (New Caledonia)
- New Zealand
- (New Zealand)
- Nicaragua
- (Nicaragua)
- Niger
- (Niger)
- Nigeria
- (Nigeria)
- Niue
- (Niue)
- Norfolk Island
- (Norfolk Island)
- Northern Ireland
- (Northern Ireland)
- Northern Mariana Islands
- (Northern Mariana Islands)
- Norway
- (Norway)
- Oman
- (Oman)
- Pakistan
- (Pakistan)
- Palau
- (Palau)
- Palestine
- (Palestine)
- Panama
- (Panama)
- Papua New Guinea
- (Papua New Guinea)
- Paraguay
- (Paraguay)
- Peru
- (Peru)
- Philippines
- (Philippines)
- Pitcairn
- (Pitcairn)
- Poland
- (Poland)
- Polynesia, French
- (Polynesia, French)
- Portugal
- (Portugal)
- Puerto Rico
- (Puerto Rico)
- Qatar
- (Qatar)
- Reunion
- (Reunion)
- Romania
- (Romania)
- Russia
- (Russia)
- Russian Federation
- (Russian Federation)
- Rwanda
- (Rwanda)
- S. Georgia and S. Sandwich Isls.
- (S. Georgia and S. Sandwich Isls.)
- Saint Kitts and Nevis
- (Saint Kitts and Nevis)
- Saint Lucia
- (Saint Lucia)
- Saint Vincent and The Grenadines
- (Saint Vincent and The Grenadines)
- Samoa
- (Samoa)
- San Marino
- (San Marino)
- Sao Tome and Principe
- (Sao Tome and Principe)
- Saudi Arabia
- (Saudi Arabia)
- Scotland
- (Scotland)
- Senegal
- (Senegal)
- Serbia
- (Serbia)
- Seychelles
- (Seychelles)
- Sierra Leone
- (Sierra Leone)
- Singapore
- (Singapore)
- Slovakia (Slovak Republic)
- (Slovakia (Slovak Republic))
- Slovenia
- (Slovenia)
- Solomon Islands
- (Solomon Islands)
- Somalia
- (Somalia)
- South Africa
- (South Africa)
- Southern Territories, French
- (Southern Territories, French)
- Soviet Union (former)
- (Soviet Union (former))
- Spain
- (Spain)
- Sri Lanka
- (Sri Lanka)
- St. Helena, Ascension and Tristan da
- Cunha
- (St. Helena, Ascension and Tristan da
- Cunha)
- St. Pierre and Miquelon
- (St. Pierre and Miquelon)
- Sudan
- (Sudan)
- Sudan, South
- (Sudan, South)
- Suriname
- (Suriname)
- Svalbard and Jan Mayen Islands
- (Svalbard and Jan Mayen Islands)
- Swaziland
- (Swaziland)
- Sweden
- (Sweden)
- Switzerland
- (Switzerland)
- Syria
- (Syria)
- Taiwan
- (Taiwan)
- Tajikistan
- (Tajikistan)
- Tanzania
- (Tanzania)
- Thailand
- (Thailand)
- Togo
- (Togo)
- Tokelau
- (Tokelau)
- Tonga
- (Tonga)
- Trinidad and Tobago
- (Trinidad and Tobago)
- Tunisia
- (Tunisia)
- Turkey
- (Turkey)
- Turkmenistan
- (Turkmenistan)
- Turks and Caicos Islands
- (Turks and Caicos Islands)
- Tuvalu
- (Tuvalu)
- Uganda
- (Uganda)
- Ukraine
- (Ukraine)
- United Arab Emirates
- (United Arab Emirates)
- United Kingdom (Great Britain)
- (United Kingdom (Great Britain))
- United States
- (United States)
- Uruguay
- (Uruguay)
- US Minor Outlying Islands
- (US Minor Outlying Islands)
- Uzbekistan
- (Uzbekistan)
- Vanuatu
- (Vanuatu)
- Vatican City State (Holy See)
- (Vatican City State (Holy See))
- Venezuela
- (Venezuela)
- Viet Nam
- (Viet Nam)
- Virgin Islands (British)
- (Virgin Islands (British))
- Virgin Islands (US)
- (Virgin Islands (US))
- Wales
- (Wales)
- Wallis and Futuna Islands
- (Wallis and Futuna Islands)
- Western Sahara
- (Western Sahara)
- Yemen
- (Yemen)
- Yugoslavia
- (Yugoslavia)
- Zaire
- (Zaire)
- Zambia
- (Zambia)
- Zimbabwe
- (Zimbabwe)
Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death: age at which the individual deceased (when applicable):
- 35y = 35 years
- >43y = still alive at 43y
- 04y08m = 4 years and 8 months
- 00y00m01d12h = 1 day and 12 hours
- 18y? = around 18 years
- 30y-40y = between 30 and 40 years
- >54y = older than 54
- ? = unknown
VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment: treatment of patient

 Effect
|

 Exon
|

 DNA change (cDNA)
|

 RNA change
|

 Protein
|

 P-domain
|

 Allele
|

 Classification method
|

 Clinical classification
|

 DNA change (genomic) (hg19)
|

 DNA change (hg38)
|

 Published as
|

 ISCN
|

 DB-ID
|
 Variant remarks
|

 Reference
|

 ClinVar ID
|

 dbSNP ID
|

 Origin
|

 Segregation
|

 Frequency
|

 Re-site
|

 VIP
|

 Methylation
|

 Template
|

 Technique
|

 Tissue
|
 Remarks
|

 Disease
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Panel size
|

 Owner
|
+?/. |
- |
c.1147del |
r.(?) |
p.(Ala385fs) |
- |
Parent #2 |
- |
likely pathogenic |
g.45797374del |
g.45331702del |
- |
- |
MUTYH_000069 |
only 4 polypoid structures reported. |
PubMed: Neveling 2013 |
- |
- |
Unknown |
? |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
? |
- |
PubMed: Neveling 2013 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Marcel Nelen |
+/. |
- |
c.1147del |
r.(?) |
p.(Ala385ProfsTer23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23) |
- |
MUTYH_000069 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
DUPLICATE – to be removed |
- |
- |
Germline |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Eliason 2005 |
- |
- |
Unknown |
- |
1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients |
- |
- |
- |
DNA |
SEQ |
- |
- |
cancer, colon |
- |
PubMed: Eliason 2005 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Eliason 2005 |
- |
- |
Unknown |
- |
1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients |
- |
- |
- |
DNA |
SEQ |
- |
- |
cancer, colon |
- |
PubMed: Eliason 2005 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Eliason 2005 |
- |
- |
Unknown |
- |
1/219 APC neg FAP patients; 1/306 MLH1 and MSH2 neg HNPCC patients |
- |
- |
- |
DNA |
SEQ |
- |
- |
cancer, colon |
- |
PubMed: Eliason 2005 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
2 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #1 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Aceto 2005 |
- |
- |
Unknown |
- |
1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls |
- |
- |
- |
DNA |
DHPLC, SEQ |
- |
- |
cancer, colon |
- |
PubMed: Aceto 2005 |
- |
- |
- |
Italy |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Sieber 2003 |
- |
- |
Unknown |
- |
1/152 UK patients with 3-100 polyps |
- |
- |
- |
DNA |
SSCA, SEQ |
- |
- |
? |
- |
PubMed: Sieber 2003 |
- |
M |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Bouguen 2007 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
cancer, colon |
- |
PubMed: Bouguen 2007 |
APC negative patients |
F |
- |
France |
white |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Bouguen 2007 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
cancer, colon |
- |
PubMed: Bouguen 2007 |
APC negative patients |
M |
- |
France |
white |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #1 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
? |
- |
PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 |
Among 170 APC negative Dutch FAP patients |
M |
- |
Netherlands |
- |
- |
- |
- |
- |
1 |
Carli Tops |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #1 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
? |
- |
PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 |
Among 170 APC negative Dutch FAP patients |
M |
- |
Netherlands |
- |
- |
- |
- |
- |
1 |
Carli Tops |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #1 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
cancer, rectal |
- |
PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 |
Among 170 APC negative Dutch FAP patients |
F |
- |
Netherlands |
- |
- |
- |
- |
- |
1 |
Carli Tops |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #1 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
cancer, colon |
- |
PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 |
Among 170 APC negative Dutch FAP patients |
M |
- |
(Netherlands) |
- |
- |
- |
- |
- |
1 |
Carli Tops |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #1 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Nielsen 2005; PubMed: Nielsen 2007; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
cancer, rectal |
- |
PubMed: Nielsen 2005, PubMed: Nielsen 2007, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 |
Among 170 APC negative Dutch FAP patients |
F |
- |
(Netherlands) |
- |
- |
- |
- |
- |
1 |
Carli Tops |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Piccioli 2006 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
? |
PMID16455870_4 |
PubMed: Piccioli 2006 |
- |
- |
- |
Italy |
- |
- |
- |
- |
- |
1 |
Carli Tops |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Olschwang 2007 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
CRC |
- |
PubMed: Olschwang 2007 |
No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France |
- |
- |
- |
Mediterranean |
- |
- |
- |
- |
3 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
Clinical Genetics, LUMC, Leiden, NL |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
? |
- |
Clinical Genetics, LUMC, Leiden, NL |
- |
M |
- |
Netherlands |
- |
- |
- |
- |
- |
1 |
Carli Tops |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #1 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC; 1103delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
MGZ, Munchen, DE |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
? |
- |
MGZ, Munchen, Germany |
- |
- |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Elke Holinski-Feder |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1103delC;1105del (Ala371ProfsX23);(Ala369AlafsX26) |
- |
MUTYH_000069 |
- |
PubMed: Gómez-Fernández 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SSCA, TaqMan |
leukocyte |
Taqman 4 variants, screen MUTYH gene (index) |
CRC |
- |
PubMed: Gómez-Fernández 2009 |
Family: Mother: Breast Cancer(66) Brother:2 CRC (age 46); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations |
- |
- |
Spain |
Catalonian |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC; 1103delC (Ala371ProfsX23); (Ala368fs) |
- |
MUTYH_000069 |
- |
PubMed: Filipe 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SSCA, SEQ |
leukocyte |
screen MUTYH gene (index) |
CRC |
- |
PubMed: Filipe 2009 |
39/48 FAP patients (>100 adenomas): APC mutation; 3/9 (33%) of APC negative FAP patients: MUTYH mutations |
- |
- |
Portugal |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #1 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC; 1103delC (Ala371ProfsX23); (Ala368fs) |
- |
MUTYH_000069 |
- |
PubMed: Filipe 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SSCA, SEQ |
leukocyte |
screen MUTYH gene (index) |
CRC |
- |
PubMed: Filipe 2009 |
6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations |
- |
- |
Portugal |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #2 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC; 1103delC (Ala371ProfsX23); (Ala368fs) |
- |
MUTYH_000069 |
- |
PubMed: Filipe 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SSCA, SEQ |
leukocyte |
screen MUTYH gene (index) |
CRC |
- |
PubMed: Filipe 2009 |
6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations |
- |
- |
Portugal |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1138delC (Ala371ProfsX23); Ala379fx401X |
- |
MUTYH_000069 |
- |
PubMed: Russell 2006 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
? |
- |
PubMed: Russell 2006 |
79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP |
F |
- |
Switzerland |
- |
- |
- |
- |
- |
1 |
Karl Heinimann |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1138delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Dallosso 2008 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
SEQ (ex1-16), screen MUTYH gene (index) |
CRC |
- |
PubMed: Dallosso 2008 |
33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003 |
M |
- |
United Kingdom (Great Britain);New Zealand |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #1 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1138delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Dallosso 2008 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
SEQ (ex1-16), screen MUTYH gene (index) |
CRC |
- |
PubMed: Dallosso 2008 |
33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003 |
M |
- |
United Kingdom (Great Britain);New Zealand |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #2 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1138delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Dallosso 2008 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
SEQ (ex1-16), screen MUTYH gene (index) |
CRC |
- |
PubMed: Dallosso 2008 |
33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003 |
M |
- |
United Kingdom (Great Britain);New Zealand |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1103delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern) |
PubMed: Di Gregorio 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
IHC, SEQ |
leukocyte |
SEQ (ex1-16), screen MUTYH gene (index) |
? |
16890597_14 |
PubMed: Di Gregorio 2006 |
IHC study of 20 tumor samples from 18 biallelic MUTYH carriers |
F |
- |
Italy |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1103delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern) |
PubMed: Di Gregorio 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
IHC, SEQ |
leukocyte |
SEQ (ex1-16), screen MUTYH gene (index) |
? |
16890597_16 |
PubMed: Di Gregorio 2006 |
IHC study of 20 tumor samples from 18 biallelic MUTYH carriers |
F |
- |
Italy |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1103delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers |
PubMed: Croitoru 2007; PubMed: O Shea 2008 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
DHPLC, SEQ |
leukocyte |
ex 1-16, screen MUTYH gene (index) |
CRC |
17219385_5_proband |
PubMed: Croitoru 2007, PubMed: O Shea 2008 |
Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative |
F |
- |
(Canada);Italy |
Italy |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1103delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Croitoru 2007 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
DHPLC, SEQ |
leukocyte |
ex 1-16, screen MUTYH gene (index) |
? |
17219385_6 |
PubMed: Croitoru 2007 |
Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative |
F |
- |
(Canada);Italy |
Italy |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #1 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1103delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers |
PubMed: Croitoru 2007; PubMed: O Shea 2008 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
DHPLC, SEQ |
leukocyte |
ex 1-16, test known variants (relative) |
CRC |
17219385_5_nephew |
PubMed: Croitoru 2007, PubMed: O Shea 2008 |
Nephew of #1010680 |
M |
- |
Canada |
Italy |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #2 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1103delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers |
PubMed: Croitoru 2007; PubMed: O Shea 2008 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
DHPLC, SEQ |
leukocyte |
ex 1-16, test known variants (relative) |
CRC |
17219385_5_nephew |
PubMed: Croitoru 2007, PubMed: O Shea 2008 |
Nephew of #1010680 |
M |
- |
Canada |
Italy |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1103delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: Croitoru 2007 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
DHPLC, SEQ |
leukocyte |
ex 1-16, test known variants (relatives) |
? |
17219385_5_relatives_1103del |
PubMed: Croitoru 2007 |
7 relatives of #1010680 with 1103delC/-: unaffected |
- |
- |
Canada |
Italy |
- |
- |
- |
- |
7 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #1 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1103delC |
- |
MUTYH_000069 |
- |
PubMed: Lefevre 2006 |
- |
- |
Germline |
- |
2/64 |
- |
- |
- |
DNA |
SEQ |
normal colonic tissue |
screen MUTYH gene (index) |
CRC |
17122612-14 |
PubMed: Lefevre 2006 |
- |
M |
- |
France |
- |
- |
- |
- |
- |
1 |
Carli Tops |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #2 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1103delC |
- |
MUTYH_000069 |
- |
PubMed: Lefevre 2006 |
- |
- |
Germline |
- |
2/64 |
- |
- |
- |
DNA |
SEQ |
normal colonic tissue |
screen MUTYH gene (index) |
CRC |
17122612-14 |
PubMed: Lefevre 2006 |
- |
M |
- |
France |
- |
- |
- |
- |
- |
1 |
Carli Tops |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1103delC |
- |
MUTYH_000069 |
- |
PubMed: Cattaneo 2008 |
- |
- |
Unknown |
- |
0/1290 |
- |
- |
- |
DNA |
PCRdig |
leukocyte |
test known variant (645 controls) |
? |
- |
PubMed: Cattaneo 2008 |
645 healty controls |
- |
- |
Greece;Italy |
- |
- |
- |
- |
- |
- |
Carli Tops |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #2 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
Clinical Genetics, ErasmusMC, Rotterdam, NL |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
? |
- |
Clinical Genetics, ErasmusMC, Rotterdam, NL |
- |
- |
- |
(Netherlands) |
- |
- |
- |
- |
- |
1 |
Ans M.W. van den Ouweland |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
Medical Genetics, UZ Gent, Gent, BE |
- |
- |
Unknown |
- |
1/182 |
- |
- |
- |
DNA |
SEQ |
leukocyte |
- |
? |
- |
Medical Genetics, UZ Gent, Gent, BE |
tested 91 patients with clinical diagnosis (A)FAP without detectable APC mutation, by sequencing of entire MUTYH gene |
M |
- |
Belgium |
- |
- |
- |
- |
- |
1 |
Kathleen Claes |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Vogt 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
CRC |
- |
PubMed: Vogt 2009 |
- |
M |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Vogt 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (part?) (relative) |
? |
- |
PubMed: Vogt 2009 |
- |
M |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Aretz 2006; PubMed: Vogt 2009 |
- |
- |
Germline |
- |
7/658 |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
? |
- |
PubMed: Aretz 2006, PubMed: Vogt 2009 |
- |
F |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Aretz 2006; PubMed: Vogt 2009 |
- |
- |
Germline |
- |
7/658 |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
? |
- |
PubMed: Aretz 2006, PubMed: Vogt 2009 |
- |
M |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Aretz 2006; PubMed: Vogt 2009 |
- |
- |
Germline |
- |
7/658 |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
? |
- |
PubMed: Aretz 2006, PubMed: Vogt 2009 |
- |
F |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Aretz 2006; PubMed: Vogt 2009 |
- |
- |
Germline |
- |
7/658 |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
CRC |
- |
PubMed: Aretz 2006, PubMed: Vogt 2009 |
- |
F |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Aretz 2006 |
- |
- |
Germline |
- |
7/658 |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
CRC |
- |
PubMed: Aretz 2006 |
- |
- |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Aretz 2006; PubMed: Vogt 2009 |
- |
- |
Germline |
- |
7/658 |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
CRC |
- |
PubMed: Aretz 2006, PubMed: Vogt 2009 |
- |
F |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Vogt 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (part?) (relative) |
CRC |
- |
PubMed: Vogt 2009 |
- |
F |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Vogt 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (part?) (relative) |
CRC |
- |
PubMed: Vogt 2009 |
- |
M |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Aretz 2006; PubMed: Vogt 2009 |
- |
- |
Germline |
- |
7/658 |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
CRC |
- |
PubMed: Aretz 2006, PubMed: Vogt 2009 |
- |
F |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Aretz 2006; PubMed: Vogt 2009 |
- |
- |
Germline |
- |
7/658 |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
? |
- |
PubMed: Aretz 2006, PubMed: Vogt 2009 |
- |
F |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Aretz 2006; PubMed: Vogt 2009 |
- |
- |
Germline |
- |
7/658 |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
? |
- |
PubMed: Aretz 2006, PubMed: Vogt 2009 |
- |
M |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Vogt 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (part?) (relative) |
? |
- |
PubMed: Vogt 2009 |
- |
F |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Vogt 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (part?) (relative) |
? |
- |
PubMed: Vogt 2009 |
- |
M |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Vogt 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
? |
- |
PubMed: Vogt 2009 |
- |
F |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105delC (Ala371ProfsX23); Ala385ProfsX25 |
- |
MUTYH_000069 |
- |
PubMed: Vogt 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
CRC |
- |
PubMed: Vogt 2009 |
- |
M |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
Stefan Aretz |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #1 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1103delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: De Ferro 2007 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SSCA, SEQ |
- |
screen MUTYH gene (index) |
CRC |
- |
PubMed: De Ferro 2007 |
- |
F |
- |
Portugal |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #2 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1103delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: De Ferro 2007 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SSCA, SEQ |
- |
screen MUTYH gene (index) |
CRC |
- |
PubMed: De Ferro 2007 |
- |
F |
- |
Portugal |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #1 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1103delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: De Ferro 2007 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SSCA, SEQ |
- |
screen MUTYH gene (relative) |
? |
- |
PubMed: De Ferro 2007 |
- |
F |
- |
Portugal |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #2 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1103delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: De Ferro 2007 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SSCA, SEQ |
- |
screen MUTYH gene (relative) |
? |
- |
PubMed: De Ferro 2007 |
- |
F |
- |
Portugal |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1103delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: De Ferro 2007 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SSCA, SEQ |
- |
screen MUTYH gene (relative) |
? |
- |
PubMed: De Ferro 2007 |
- |
- |
- |
Portugal |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1103delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
PubMed: De Ferro 2007 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SSCA, SEQ |
- |
screen MUTYH gene (relative) |
? |
- |
PubMed: De Ferro 2007 |
- |
- |
- |
Portugal |
- |
- |
- |
- |
- |
1 |
Astrid Out |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #2 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
- |
cancer, colon |
- |
- |
- |
F |
- |
Brazil |
white |
- |
- |
- |
- |
1 |
Giovana Torrezan |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Parent #2 |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
- |
Clinical Genetics, ErasmusMC, Rotterdam, NL |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index patient) |
? |
- |
Clinical Genetics, ErasmusMC, Rotterdam, NL |
- |
- |
- |
(Netherlands) |
- |
- |
- |
- |
- |
1 |
Ans M.W. van den Ouweland |
+/. |
12 |
c.1147del |
r.(1147del) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
1105del; 1105delC (Ala371ProfsX23) |
- |
MUTYH_000069 |
No effect on usage of alternative first exons |
PubMed: Plotz et al. 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
- |
cancer, rectal |
- |
PubMed: Plotz 2012 |
- |
F |
- |
Germany |
- |
- |
- |
- |
- |
1 |
Guido Plotz |
+/. |
12 |
c.1147del |
r.(?) |
p.(Ala385ProfsX23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
- |
- |
MUTYH_000069 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
leukocyte |
screen MUTYH gene (index) |
? |
- |
- |
- |
M |
- |
Spain |
- |
- |
- |
- |
- |
1 |
Elke Holinski-Feder |
+/. |
- |
c.1147del |
r.(?) |
p.(Ala385Profs*23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
- |
- |
MUTYH_000069 |
- |
PubMed: Baert-Desurmont 2018 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
? |
- |
- |
FAP |
- |
PubMed: Baert-Desurmont 2018 |
- |
F |
- |
France |
- |
- |
- |
- |
- |
1 |
Stephanie Baert-Desurmont |
+/. |
- |
c.1147del |
r.(?) |
p.(Ala385Profs*23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
disruptive variant |
- |
MUTYH_000069 |
- |
PubMed: Baert-Desurmont 2018 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
? |
- |
- |
? |
- |
PubMed: Baert-Desurmont 2018 |
- |
- |
- |
France |
- |
- |
- |
- |
- |
1 |
Stephanie Baert-Desurmont |
+/. |
- |
c.1147del |
r.(?) |
p.(Ala385Profs*23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
- |
- |
MUTYH_000069 |
- |
PubMed: Baert-Desurmont 2018 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
? |
- |
- |
? |
- |
PubMed: Baert-Desurmont 2018 |
- |
- |
- |
France |
- |
- |
- |
- |
- |
1 |
Stephanie Baert-Desurmont |
+/. |
- |
c.1147del |
r.(?) |
p.(Ala385Profs*23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
g.45331702del |
- |
- |
MUTYH_000069 |
- |
PubMed: Baert-Desurmont 2018 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
? |
- |
- |
FAP |
- |
PubMed: Baert-Desurmont 2018 |
- |
- |
- |
France |
- |
- |
- |
- |
- |
1 |
Stephanie Baert-Desurmont |
+/. |
12 |
c.1147del |
r.(?) |
p.Ala385Profs*23 |
- |
Unknown |
- |
NA |
g.45797374del |
g.45331702del |
18534194_glycosylase_1103delC |
- |
MUTYH_000069 |
In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; absent glycosylase activity for GO:A |
PubMed: Ali 2008 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
12 |
c.1147del |
r.(?) |
p.Ala385Profs*23 |
- |
Unknown |
- |
NA |
g.45797374del |
g.45331702del |
18534194_binding_1103delC |
- |
MUTYH_000069 |
DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; absent substrate binding |
PubMed: Ali 2008 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
12 |
c.1147del |
r.(?) |
p.Ala385Profs*23 |
- |
Unknown |
- |
NA |
g.45797374del |
g.45331702del |
18534194_protein_1103delC |
- |
MUTYH_000069 |
Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed |
PubMed: Ali 2008 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
12 |
c.1147del |
r.(?) |
p.Ala385Profs*23 |
- |
Unknown |
- |
NA |
g.45797374del |
g.45331702del |
15987719_RNA_G396D_1147del |
- |
MUTYH_000069 |
RNA expression assay; Patient derived lymphoblastoid cell line; Q-RT-PCR; mRNA expression; mRNA levels similar to WT |
PubMed: Parker 2005 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
12 |
c.1147del |
r.(?) |
p.Ala385Profs*23 |
- |
Unknown |
- |
NA |
g.45797374del |
g.45331702del |
15987719_survival_G396D_1147del |
- |
MUTYH_000069 |
In vivo survival assay; Patient derived lymphoblastoid cell line; cell survival after H2O2 and menadione (oxidative damage inducing) administration; No significant effect on cell survival compared with WT |
PubMed: Parker 2005 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
12 |
c.1147del |
r.(?) |
p.Ala385Profs*23 |
- |
Unknown |
- |
NA |
g.45797374del |
g.45331702del |
15987719_western_G396D_1147del |
- |
MUTYH_000069 |
Protein expression assay; Patient derived lymphoblastoid cell line; protein expression, Western blot; Reduced protein levels (40ñ50% of WT levels); unexpectedly, no faster migrating protein band observed; residual protein level probablyfrom G396D allele |
PubMed: Parker 2005 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
12 |
c.1147del |
r.(?) |
p.Ala385Profs*23 |
- |
Unknown |
- |
NA |
g.45797374del |
g.45331702del |
15987719_binding_G396D_1147del |
- |
MUTYH_000069 |
DNA binding assay; Patient derived lymphoblastoid cell line; UV A:GO and AO:G binding assay (relatively specific for MUTYH); Reduction in substate binding (similar to reduction in protein expression), 40-50% of WT; residual binding probably from G396D allele |
PubMed: Parker 2005 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
12 |
c.1147del |
r.(?) |
p.Ala385Profs*23 |
- |
Unknown |
- |
NA |
g.45797374del |
g.45331702del |
15987719_glycosylase_G396D_1147del |
- |
MUTYH_000069 |
In vitro glycosylase assay; Patient derived lymphoblastoid cell line; Glycosylase assay for A:GO and AO:G; Strongly reduced A:GO and somewhat reduced AO:G glycosylase activity in comparison to WT; residual activity probably from G396D allele |
PubMed: Parker 2005 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
12 |
c.1147del |
r.(?) |
p.Ala385Profs*23 |
- |
Unknown |
- |
NA |
g.45797374del |
g.45331702del |
15987719_complementation_G396D_1147del |
- |
MUTYH_000069 |
In vivo complementation assay; Patient derived lymphoblastoid cell line; complementation with WT nuclear or mitochondrial MUTYH cDNA; WT MUTYH complemented A:GO and AO:G cleavage function (so no apparent dominant negative effect of mutant MUTYH of cell line) |
PubMed: Parker 2005 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
- |
c.1147del |
r.(?) |
p.(Ala385ProfsTer23) |
- |
Unknown |
ACMG |
pathogenic |
g.45797374del |
g.45331702del |
- |
- |
MUTYH_000069 |
ACMG grading: PVS1,PP5,PS4; ovarian cancer at age 72y, no informative family history; HBOC-12 gene panel negative result; reported in Ricci 2017. J Hum Genet 62: 309; Sieber 2003. N Engl J Med 348: 791 |
- |
- |
rs587778536 |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-S |
- |
- |
- |
- |
- |
- |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Andreas Laner |
+/. |
- |
c.1147del |
r.(?) |
p.(Ala385ProfsTer23) |
- |
Unknown |
- |
pathogenic |
g.45797374del |
- |
MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23) |
- |
MUTYH_000069 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.1147del |
r.(?) |
p.(Ala385Profs*23) |
- |
Parent #1 |
- |
NA |
g.45797374del |
- |
chr1_45797371_AG_A |
- |
MUTYH_000069 |
the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types |
PubMed: Dorling 2021, Journal: Dorling 2021 |
- |
- |
Germline |
- |
20/60466 cases |
- |
- |
- |
DNA |
SEQ-NG |
- |
34-gene panel |
cancer, breast |
- |
PubMed: Dorling 2021, Journal: Dorling 2021 |
analysis 60466 cases (BRIDGES) |
- |
- |
- |
- |
- |
- |
bcac.ccge.medschl.cam.ac.uk/contact |
- |
20 |
BRIDGES consortium |
?/. |
- |
c.1147del |
r.(?) |
p.(Ala385Profs*23) |
- |
Parent #1 |
- |
NA |
g.45797374del |
- |
chr1_45797371_AG_A |
- |
MUTYH_000069 |
the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types |
PubMed: Dorling 2021, Journal: Dorling 2021 |
- |
- |
Germline |
- |
7/53461 controls |
- |
- |
- |
DNA |
SEQ-NG |
- |
34-gene panel |
Healthy/Control |
- |
PubMed: Dorling 2021, Journal: Dorling 2021 |
analysis 53461 controls (BRIDGES) |
- |
- |
- |
- |
- |
- |
bcac.ccge.medschl.cam.ac.uk/contact |
- |
7 |
BRIDGES consortium |