Global Variome shared LOVD
MUTYH (mutY homolog (E. coli))
LOVD v.3.0 Build 30b [
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Curator:
Ian Frayling
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APC (adenomatous polyposis coli)
CDH1 (cadherin 1, type 1, E-cadherin (epithelial))
EPCAM (epithelial cell adhesion molecule)
GALNT12 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalacto...)
MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli))
MLH3 (mutL homolog 3 (E. coli))
MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli))
MSH6 (mutS homolog 6 (E. coli))
MUTYH (MUTYH (mutY homolog (E. coli))
PMS2 (PMS2 postmeiotic segregation increased 2 (S. cerevisiae))
The variants shown are described using the NM_001128425.1 transcript reference sequence.
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
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Operator
Column type
Example
Matches
Text
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space
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Text
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!
Text
!fs
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^
Text
^p.(Arg
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$
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Ser)$
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=""
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=""
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="p.0"
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!=""
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!=""
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!=""
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combination
Text
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Date
2020
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|
Date
2020-03|2020-04
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!
Date
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<
Date
<2020
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
Date
>=2020-06-15
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combination
Date
2019|2020 <2020-03
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Numeric
23
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|
Numeric
23|24
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!
Numeric
!23
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<
Numeric
<23
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Numeric
<=23
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>
Numeric
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Numeric
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combination
Numeric
>=20 <30 !23
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Example
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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all entries containing 'Asian' but not containing 'Caucasian'
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all entries containing 'Asian' or 'African', but not containing 'Caucasian'
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all entries containing 'South Asian', but not containing 'South East Asian'
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79 entries on 1 page. Showing entries 1 - 79.
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How to query
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.64G>A
r.(?)
p.(Val22Met)
-
Unknown
-
benign
g.45800156C>T
g.45334484C>T
MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M)
-
MUTYH_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.64G>A
r.(?)
p.(Val22Met)
-
Unknown
-
benign
g.45800156C>T
g.45334484C>T
MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M)
-
MUTYH_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
DUPLICATE – to be removed
-
rs3219484
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Görgens 2006
-
rs3219484
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Görgens 2006
3/50 (6%) HNPCC patients (42/50 <50 years); (8.6% of 116 controls)
-
-
Germany
white
-
-
-
-
3
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Parent #1
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Görgens 2006
-
rs3219484
Unknown
-
1/50 (2%) HNPCC patients (42/50 <50 years); (0% of 116 controls)
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Görgens 2006
-
-
-
Germany
white
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
V22M
-
MUTYH_000005
V22M in 2/29 monoallelic Y165C or G382D carrying patients; 0/21 mono allelic Y165C or G382D carrying controls; Only coding region variants reported
PubMed: Croitoru 2004
-
rs3219484
Germline
-
1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics
-
-
-
DNA
DHPLC, SEQ
leukocyte
ex 1-16, screen MUTYH gene (index)
CRC
15523092_15
PubMed: Croitoru 2004
-
M
-
Canada
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Shin 2007
-
rs3219484
Unknown
-
1/250 (0.4%) patients
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
PubMed: Shin 2007
-
M
-
Canada
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Shin 2007
-
rs3219484
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
PubMed: Shin 2007
8% of 26 patients (5: 2 1st-dgr relatives with CRC; 15: 1 1st-dgr relative; 9: CRC in 2nd-dgr family)
M
-
Canada
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Shin 2007
-
rs3219484
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
PubMed: Shin 2007
8% of 26 patients (5: 2 1st-dgr relatives with CRC; 15: 1 1st-dgr relative; 9: CRC in 2nd-dgr family)
M
-
Canada
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Alhopuro 2005
-
rs3219484
Unknown
-
1/24 individuals (22 families). FAP: 19, AFAP: 3
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Alhopuro 2005
-
-
-
Finland
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Parent #1
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Alhopuro 2005
-
rs3219484
Unknown
-
2/24 individuals (22 families); FAP: 19, AFAP: 3
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Alhopuro 2005
-
-
-
Finland
-
-
-
-
-
2
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Kambara 2004
-
rs3219484
Unknown
-
12 Sporadic CRC patients
-
-
-
DNA
PCRdig, SEQ
-
-
CRC
-
PubMed: Kambara 2004
-
-
-
Australia
-
-
-
-
-
12
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Kambara 2004
-
rs3219484
Unknown
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
?
-
PubMed: Kambara 2004
9 healthy blood donors
-
-
Australia
-
-
-
-
-
9
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Kambara 2004
-
rs3219484
Unknown
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
cancer, colon
-
PubMed: Kambara 2004
familial CRC patient; does not meet Bethesda criteria.
M
-
Australia
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
In N-terminal mitochondrial targeting signal (Shinmura 2001)
PubMed: Shinmura 2001
-
rs3219484
Unknown
-
-
-
-
-
DNA
SSCA, SEQ
-
-
cancer
PMID11295288_2
PubMed: Shinmura 2001
among 43 US individuals with various types of carcinoma
-
-
United States
-
-
-
-
-
2
Carli Tops
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Isidro 2004
-
rs3219484
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
PMID15366000_9
PubMed: Isidro 2004
-
-
-
-
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Al-Tassan 2002
-
rs3219484
Unknown
-
-
-
-
-
DNA
DHPLC
-
-
?
PMID11818965_control3
PubMed: Al-Tassan 2002
9% allele frequency in 100 controls
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Al-Tassan 2002
-
rs3219484
Unknown
-
-
-
-
-
DNA
DHPLC
-
-
CRC
PMID11818965_CRC1
PubMed: Al-Tassan 2002
allele frequency 9% in 42 individuals with CRC at 40 y or younger or one or more first degree relatives with CRC
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Al-Tassan 2002
-
rs3219484
Unknown
-
-
-
-
-
DNA
DHPLC
-
-
?
PMID11818965_AFAP1
PubMed: Al-Tassan 2002
allele frequency 9% in 16 indiduals with 3-50 adenomas with or without carcinoma
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Olschwang 2007
-
rs3219484
Unknown
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
PubMed: Olschwang 2007
No info 2nd allele; Among 406 patients with more than 5 polyps and, or CRC in France
-
-
-
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Küry 2007
-
rs3219484
Unknown
-
6/200
-
-
-
DNA
SEQ
-
-
CRC
-
PubMed: Küry 2007
6% of 100 sporadic CRC patients
-
-
France
white
-
-
-
-
6
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Parent #2
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
Clinical Genetics, LUMC, Leiden, NL
-
rs3219484
Germline
-
-
-
-
-
DNA
PCR
leukocyte
screen MUTYH gene (index)
cancer, breast
-
Clinical Genetics, LUMC, Leiden, NL
-
F
-
Netherlands
-
-
-
-
-
1
Carli Tops
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
In N-terminal mitochondrial targeting signal (Shinmura 2001)
PubMed: Shinmura 2001
-
rs3219484
Unknown
-
-
-
-
-
DNA
SSCA, SEQ
-
SSCA (coding, flanking)
-
PMID11295288_9
PubMed: Shinmura 2001
among 47 lung cancer cell lines
-
-
-
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Parent #1
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
MGZ, Munchen, DE
-
rs3219484
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
MGZ, Munchen, Germany
not yet affected (her mother was diagnosed with attenuated familial polyposis coli, because of a carcinoma coli and recurrent adenomas of the tubulovilli kind). variatns also in mother
-
-
(Germany)
-
-
-
-
-
1
Elke Holinski-Feder
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Agalliu 2009
-
rs3219484
Unknown
-
178/2512=7.1%
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, test known variant (group)
cancer, prostate
-
PubMed: Agalliu 2009
164/1256 (13.1%) heterozygotes among Caucasian prostate cancer patients (7 homozygotes)
M
-
United States
white
-
-
-
-
164
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Parent #1
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Agalliu 2009
-
rs3219484
Unknown
-
178/2512=7.1%
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, test known variant (group)
cancer, prostate
-
PubMed: Agalliu 2009
7/1256 (0.6%) homozygotes among Caucasian prostate cancer patients (164 heterozygotes)
M
-
United States
white
-
-
-
-
7
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Parent #2
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Agalliu 2009
-
rs3219484
Unknown
-
178/2512=7.1%
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, test known variant (group)
cancer, prostate
-
PubMed: Agalliu 2009
7/1256 (0.6%) homozygotes among Caucasian prostate cancer patients (164 heterozygotes)
M
-
United States
white
-
-
-
-
7
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Agalliu 2009
-
rs3219484
Unknown
-
3/286=1.0%
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, test known variant (group)
cancer, prostate
-
PubMed: Agalliu 2009
3/143 (2.1%) heterozygotes among African-American prostate cancer patients (0 homozygotes)
M
-
United States
African-American
-
-
-
-
3
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Agalliu 2009
-
rs3219484
Unknown
-
183/2496=7.3%
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, test known variant (group)
?
-
PubMed: Agalliu 2009
173/1248 (13.9%) heterozygotes among Caucasian controls (5 homozygotes)
M
-
United States
white
-
-
-
-
173
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Parent #1
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Agalliu 2009
-
rs3219484
Unknown
-
183/2496=7.3%
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, test known variant (group)
?
-
PubMed: Agalliu 2009
5/1248 (0.4%) homozygotes among Caucasian controls (173 heterozygotes)
M
-
United States
white
-
-
-
-
5
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Parent #2
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Agalliu 2009
-
rs3219484
Unknown
-
183/2496=7.3%
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, test known variant (group)
?
-
PubMed: Agalliu 2009
5/1248 (0.4%) homozygotes among Caucasian controls (173 heterozygotes)
M
-
United States
white
-
-
-
-
5
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Agalliu 2009
-
rs3219484
Unknown
-
4/158=2.5%
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, test known variant (group)
?
-
PubMed: Agalliu 2009
4/79 (5.1%) heterozygotes among African-American controls (0 homozygotes)
M
-
United States
African-American
-
-
-
-
4
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Kairupan 2005
-
rs3219484
Unknown
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
?
15761860_14
PubMed: Kairupan 2005
among 120 APC mutation negative Australian polyposis patients
M
-
Australia
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
V22M
-
MUTYH_000005
-
PubMed: Zhou 2005
-
rs3219484
Unknown
-
16,1% of n=84
-
-
-
DNA
DHPLC, SEQ
leukocyte
ex 1-16 screen MUTYH gene (group)
CRC
15943555_84_4
PubMed: Zhou 2005
16,1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations
-
-
Sweden
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
V22M
-
MUTYH_000005
Genotyping 7 variants: IVS115G/C, V22M, Y90X, Y165C, G382D, E466X, S501F
PubMed: Wynter 2005
-
rs3219484
Unknown
-
1/4 Australian multiple adenoma patients
-
-
-
DNA
PCRdig
tumor
PCRdig, specific genotyping, test known variants (group)
CRC
16152625_II.4
PubMed: Wynter 2005
-
F
-
Australia
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
V22M
-
MUTYH_000005
6% of alleles
PubMed: Russell 2006
-
rs3219484
Unknown
-
6% of alleles
-
-
-
DNA
DHPLC, SEQ
leukocyte
screen MUTYH gene (group)
CRC
16287072_c64_patients
PubMed: Russell 2006
Among 79 Swiss APC mutation negative polyposis patients
-
-
Switzerland
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
V22M
-
MUTYH_000005
2% of alleles
PubMed: Russell 2006
-
rs3219484
Unknown
-
2% of alleles
-
-
-
DNA
DHPLC, SEQ
leukocyte
screen MUTYH gene (group)
?
16287072_c64_controls
PubMed: Russell 2006
Among 100 Swiss controls
-
-
Switzerland
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Lejeune 2006
-
rs3219484
Unknown
-
-
-
-
-
DNA
SEQ
-
SEQ (ex1-16), screen MUTYH gene (index)
CRC
16941501_c64
PubMed: Lejeune 2006
Found among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect
-
-
France
-
-
-
-
-
1
Carli Tops
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
Frequency in 62 probands New York, 13 Milan, 5 Madrid
PubMed: Peterlongo 2006
-
rs3219484
Unknown
-
7/160 alleles
-
-
-
DNA
SEQ
leukocyte
SEQ (ex1-16), screen MUTYH gene (index)
?
16774938_patients_64
PubMed: Peterlongo 2006
Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan
-
-
United States
Spain, Italy
-
-
-
-
7
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
V22M
-
MUTYH_000005
V22M in 2/29 monoallelic Y165C or G382D carrying patients; 0/21 mono allelic Y165C or G382D carrying controls; Only coding region variants reported
PubMed: Croitoru 2004
-
rs3219484
Germline
-
1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics
-
-
-
DNA
DHPLC, SEQ
leukocyte
ex 1-16, screen MUTYH gene (index)
CRC
15523092_33
PubMed: Croitoru 2004
-
F
-
Canada
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Parent #1
-
VUS
g.45800156C>T
g.45334484C>T
V22M
-
MUTYH_000005
-
PubMed: Croitoru 2007
-
rs3219484
Germline
-
-
-
-
-
DNA
DHPLC, SEQ
leukocyte
ex 1-16 screen MUTYH gene (group)
?
17219385_V22M_hom
PubMed: Croitoru 2007
Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative
-
-
Canada
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Parent #2
-
VUS
g.45800156C>T
g.45334484C>T
V22M
-
MUTYH_000005
-
PubMed: Croitoru 2007
-
rs3219484
Germline
-
-
-
-
-
DNA
DHPLC, SEQ
leukocyte
ex 1-16 screen MUTYH gene (group)
?
17219385_V22M_hom
PubMed: Croitoru 2007
Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative
-
-
Canada
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
V22M
-
MUTYH_000005
-
PubMed: Croitoru 2007
-
rs3219484
Germline
-
-
-
-
-
DNA
DHPLC, SEQ
leukocyte
ex 1-16 screen MUTYH gene (group)
?
17219385_V22M_het
PubMed: Croitoru 2007
Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative
-
-
Canada
-
-
-
-
-
2
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
Molecular Medicine, AUH, Skejby, Aarhus, DK
-
rs3219484
Unknown
-
15/230
-
-
-
DNA
SEQ
leukocyte
-
CRC
-
Molecular Medicine, AUH, Skejby, Aarhus, DK
-
-
-
Denmark
-
-
-
-
-
1
Mette Gaustadnes
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
Molecular Medicine, AUH, Skejby, Aarhus, DK
-
rs3219484
Unknown
-
15/230
-
-
-
DNA
SEQ
leukocyte
-
?
-
Molecular Medicine, AUH, Skejby, Aarhus, DK
7 polyps, several adenomas with dysplasia
-
-
Denmark
-
-
-
-
-
1
Mette Gaustadnes
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
Molecular Medicine, AUH, Skejby, Aarhus, DK
-
rs3219484
Unknown
-
15/230
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
polyposis
-
Molecular Medicine, AUH, Skejby, Aarhus, DK
13/115 polyposis and/or CRC patients heterozygous c.64G>A; minor allele frequency 15/230
-
-
Denmark
-
-
-
-
-
13
Mette Gaustadnes
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
Clinical Genetics, Karolinska University Hospital, Stockholm, SE
-
rs3219484
Unknown
-
-
-
-
-
DNA
SEQ
-
screening
polyposis
-
Clinical Genetics, Karolinska University Hospital, Stockholm, SE
-
F
-
Sweden
-
-
-
-
-
1
Kristina Lagerstedt Robinson
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
Clinical Genetics, Karolinska University Hospital, Stockholm, SE
-
rs3219484
Unknown
-
-
-
-
-
DNA
SEQ
-
screening
?
-
Clinical Genetics, Karolinska University Hospital, Stockholm, SE
-
F
-
Finland
-
-
-
-
-
1
Kristina Lagerstedt Robinson
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
(Val22Met)
-
MUTYH_000005
-
Molecular Diagnostics, NSCR Demokritos, Athens, GR
-
rs3219484
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
?
-
Molecular Diagnostics, NSCR Demokritos, Athens, GR
-
M
-
Greece
-
-
-
-
-
1
Florentia Fostira
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
(Val22Met)
-
MUTYH_000005
-
Molecular Diagnostics, NSCR Demokritos, Athens, GR
-
rs3219484
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (relative)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
only variants reported, not genotypes
Genetics, John Hunter Hospital, Newcastle, AU
-
rs3219484
Germline
-
frequent
-
-
-
DNA
SEQ
-
screen MUTYH gene
?
-
Genetics, John Hunter Hospital, Newcastle, AU
-
-
-
Australia
-
-
-
-
-
1
Rodney Scott
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Al-Tassan 2003
-
rs3219484
Germline
-
37/530 (7.0%)
-
-
-
DNA
SEQ
leukocyte
specific assay, screen MUTYH gene (index)
-
14579148_patients_c64_HOM
PubMed: Al-Tassan 2003
Association study between 276 lung cancer patients and 106 controls
-
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Al-Tassan 2003
-
rs3219484
Germline
-
37/530 (7.0%)
-
-
-
DNA
SEQ
leukocyte
specific assay, screen MUTYH gene (index)
-
14579148_patients_c64_HOM
PubMed: Al-Tassan 2003
Association study between 276 lung cancer patients and 106 controls
-
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Al-Tassan 2003
-
rs3219484
Germline
-
15/200 (7.5%)
-
-
-
DNA
SEQ
leukocyte
specific assay, screen MUTYH gene (index)
?
14579148_controls_c64_HOM
PubMed: Al-Tassan 2003
Association study between 276 lung cancer patients and 106 controls
-
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Al-Tassan 2003
-
rs3219484
Germline
-
15/200 (7.5%)
-
-
-
DNA
SEQ
leukocyte
specific assay, screen MUTYH gene (index)
?
14579148_controls_c64_HOM
PubMed: Al-Tassan 2003
Association study between 276 lung cancer patients and 106 controls
-
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Al-Tassan 2003
-
rs3219484
Germline
-
37/530 (7.0%)
-
-
-
DNA
SEQ
leukocyte
specific assay, screen MUTYH gene (index)
-
14579148_patients_c64_HET
PubMed: Al-Tassan 2003
Association study between 276 lung cancer patients and 106 controls
-
-
(United Kingdom (Great Britain))
-
-
-
-
-
35
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Al-Tassan 2003
-
rs3219484
Germline
-
15/200 (7.5%)
-
-
-
DNA
SEQ
leukocyte
specific assay, screen MUTYH gene (index)
?
14579148_controls_c64_HET
PubMed: Al-Tassan 2003
Association study between 276 lung cancer patients and 106 controls
-
-
(United Kingdom (Great Britain))
-
-
-
-
-
13
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Colebatch 2006
-
rs3219484
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
specific genotyping, screen MUTYH gene (index)
?
17031395_control_3
PubMed: Colebatch 2006
872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic
F
-
Australia
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
M22V
-
MUTYH_000005
-
PubMed: Schafmayer 2007
-
rs3219484
Germline
-
1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, test known variant (group)
CRC
17417778_patients_c64_HET
PubMed: Schafmayer 2007
-
-
-
Germany
-
-
-
-
-
151
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Parent #1
-
VUS
g.45800156C>T
g.45334484C>T
M22V
-
MUTYH_000005
-
PubMed: Schafmayer 2007
-
rs3219484
Germline
-
1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, test known variant (group)
CRC
17417778_patients_c64_HOM
PubMed: Schafmayer 2007
-
-
-
Germany
-
-
-
-
-
8
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Parent #2
-
VUS
g.45800156C>T
g.45334484C>T
M22V
-
MUTYH_000005
-
PubMed: Schafmayer 2007
-
rs3219484
Germline
-
1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, test known variant (group)
CRC
17417778_patients_c64_HOM
PubMed: Schafmayer 2007
-
-
-
Germany
-
-
-
-
-
8
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
M22V
-
MUTYH_000005
-
PubMed: Schafmayer 2007
-
rs3219484
Germline
-
1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, test known variant (group)
?
17417778_controls_c64_HET
PubMed: Schafmayer 2007
-
-
-
Germany
-
-
-
-
-
95
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Parent #1
-
VUS
g.45800156C>T
g.45334484C>T
M22V
-
MUTYH_000005
-
PubMed: Schafmayer 2007
-
rs3219484
Germline
-
1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, test known variant (group)
?
17417778_controls_c64_HOM
PubMed: Schafmayer 2007
-
-
-
Germany
-
-
-
-
-
4
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Parent #2
-
VUS
g.45800156C>T
g.45334484C>T
M22V
-
MUTYH_000005
-
PubMed: Schafmayer 2007
-
rs3219484
Germline
-
1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, test known variant (group)
?
17417778_controls_c64_HOM
PubMed: Schafmayer 2007
-
-
-
Germany
-
-
-
-
-
4
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
V22M
-
MUTYH_000005
-
PubMed: Görgens 2007
-
rs3219484
Germline
-
4/58 (6.9%)
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (group)
cancer, head/neck
17207658_patients_c64
PubMed: Görgens 2007
29 patients with head and neck squamous cell carcinomas: 4 (13.8%) heterozygous c.64G>A; 30 controls: 4 (13.3%) heterozygous
-
-
Germany
white
-
-
-
-
4
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
V22M
-
MUTYH_000005
-
PubMed: Görgens 2007
-
rs3219484
Germline
-
4/60 (6.7%)
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (group)
?
17207658_controls_c64
PubMed: Görgens 2007
29 patients with head and neck squamous cell carcinomas: 4 (13.8%) heterozygous c.64G>A; 30 controls: 4 (13.3%) heterozygous
-
-
Germany
white
-
-
-
-
4
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Ashton 2005
-
rs3219484
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, screen MUTYH gene (index)
CRC
-
PubMed: Ashton 2005
442 HNPCC patients with (209) or without (233) MMR mutation: 2/209 (1.0%), 5/233 (2.1%) and 7/442 (1.6%) monoallelic carrier c.536A>G or c.1187G>A; 296 controls: 4 (1.35%) monoallelic carrier c.1187G>A
F
-
Australia
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
PubMed: Ashton 2005
-
rs3219484
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
allelic discrimination, screen MUTYH gene (index)
CRC
-
PubMed: Ashton 2005
442 HNPCC patients with (209) or without (233) MMR mutation: 2/209 (1.0%), 5/233 (2.1%) and 7/442 (1.6%) monoallelic carrier c.536A>G or c.1187G>A; 296 controls: 4 (1.35%) monoallelic carrier c.1187G>A
F
-
Australia
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
V22M
-
MUTYH_000005
-
PubMed: Kanter-Smoler 2006
-
rs3219484
Germline
-
3/30 alleles
-
-
-
DNA
SEQ
-
screen MUTYH gene (index)
CRC
PMID16616356_11
PubMed: Kanter-Smoler 2006
among 15 tested APC-mutation-negative polyposis patients
F
-
Sweden
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
V22M
-
MUTYH_000005
-
PubMed: Kanter-Smoler 2006
-
rs3219484
Germline
-
3/30 alleles
-
-
-
DNA
SEQ
-
screen MUTYH gene (index)
CRC
PMID16616356_12
PubMed: Kanter-Smoler 2006
among 15 tested APC-mutation-negative polyposis patients
F
-
Sweden
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(64g>a)
p.(Val22Met)
-
Unknown
-
VUS
g.45800156C>T
g.45334484C>T
V22M
-
MUTYH_000005
-
PubMed: Kanter-Smoler 2006
-
rs3219484
Germline
-
3/30 alleles
-
-
-
DNA
SEQ
-
screen MUTYH gene (index)
?
PMID16616356_14
PubMed: Kanter-Smoler 2006
among 15 tested APC-mutation-negative polyposis patients
F
-
Sweden
-
-
-
-
-
1
Astrid Out
?/.
2
c.64G>A
r.(?)
p.Val22Met
-
Unknown
-
NA
g.45800156C>T
g.45334484C>T
18534194_glycosylase_V22M
-
MUTYH_000005
In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; glycosylase activity for GO:A similar to WT
PubMed: Ali 2008
-
rs3219484
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.64G>A
r.(?)
p.Val22Met
-
Unknown
-
NA
g.45800156C>T
g.45334484C>T
18534194_protein_V22M
-
MUTYH_000005
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
-
rs3219484
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.64G>A
r.(?)
p.(Val22Met)
-
Unknown
-
benign
g.45800156C>T
g.45334484C>T
MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M)
-
MUTYH_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.64G>A
r.(?)
p.(Val22Met)
-
Unknown
-
benign
g.45800156C>T
g.45334484C>T
MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M)
-
MUTYH_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.64G>A
r.(?)
p.(Val22Met)
-
Unknown
-
benign
g.45800156C>T
g.45334484C>T
MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M)
-
MUTYH_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.64G>A
r.(?)
p.(Val22Met)
-
Unknown
-
benign
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
cancer, colon
contributed by Dept. of Dr Vaccaro
-
-
-
-
Argentina
-
-
-
-
-
1
Carlos Vaccaro
-/.
2
c.64G>A
r.(?)
p.(Val22Met)
-
Unknown
-
benign
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
cancer, colon
-
-
-
-
-
Argentina
Spain
-
-
-
-
1
Maximiliano Zeballos
-?/.
-
c.64G>A
r.(?)
p.(Val22Met)
-
Parent #1
-
likely benign
g.45800156C>T
g.45334484C>T
-
-
MUTYH_000005
149 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs3219484
Germline
-
149/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
149
Mohammed Faruq
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