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
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)
association
unclassified
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
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 = singele 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
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.-20029923_*14371093dup
r.0?
p.0?
Unknown
-
VUS
g.27600408_62081181dup
-
chr2:2760040862081181
-
FSHR_000025
-
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1_11i
c.-75398_1759+1708del
r.spl
p.?
Unknown
-
pathogenic
g.47554933_47699909del
g.47327794_47472770del
-
-
MSH2_001624
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1_11i
c.-75398_1759+1708del
r.spl
p.(=)
Unknown
-
pathogenic
g.47554933_47699909del
g.47327794_47472770del
Deletion of Exon 1-11; g.26446264-?_26514134+?del
-
MSH2_001624
-
PubMed: Hampel 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_11i
c.-75398_1759+1708del
r.spl
p.(=)
Unknown
-
pathogenic
g.47554933_47699909del
g.47327794_47472770del
Deletion of Exon 1-11; g.26370866_26515842del144977
-
MSH2_001624
-
PubMed: Hampel 2006
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/+
1_7i
c.-47156_1277-4980del
r.spl?
p.(=)
Unknown
-
pathogenic
g.47583175_47667707del
g.47356036_47440568del
-
-
MSH2_000856
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1_7i
c.-47156_1277-4980del
r.spl
p.(=)
Unknown
-
pathogenic
g.47583175_47667707del
g.47356036_47440568del
Deletion of Exon 1-7, g.26399108_26483640del84533 (NT_022184)
-
MSH2_000856
-
PubMed: Nakagawa 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_7i
c.-47156_1277-4980del
r.spl
p.(=)
Unknown
-
pathogenic
g.47583175_47667707del
g.47356036_47440568del
Deletion of Exon 1-7, g.26399108_26483640del84533 (NT_022184)
-
MSH2_000856
-
PubMed: Hampel 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/+
1_7i
c.-35298_1276+5697del
r.spl?
p.(=)
Unknown
-
pathogenic
g.47595033_47662777del
g.47367894_47435638del
-
-
MSH2_000938
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1_7i
c.-35298_1276+5697del
r.spl
p.(=)
Unknown
-
pathogenic
g.47595033_47662777del
g.47367894_47435638del
Deletion of Exon 1-7
-
MSH2_000938
-
PubMed: Staaf 2008 ; PubMed: Charbonnier 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_7i
c.-35298_1276+5697del
r.spl
p.(=)
Unknown
-
pathogenic
g.47595033_47662777del
g.47367894_47435638del
Deletion of Exon 1-7
-
MSH2_000938
-
PubMed: Nilbert 2002
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_7i
c.-35298_1276+5697del
r.spl
p.(=)
Unknown
-
pathogenic
g.47595033_47662777del
g.47367894_47435638del
Deletion of Exon 1-7
-
MSH2_000938
-
PubMed: Lagerstedt Robinson 2007 ; PubMed: Di Fiore 2004
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_4i
c.-33687_-16578del
r.0?
p.0?
Unknown
-
pathogenic (dominant)
g.(?_47596644)_(47639700_47641407)del
g.(?_47369505)_(47412561_47414268)del
-
-
EPCAM_000064
56290 bp deletion
PubMed: Villacis 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
HNPCC8
28093616-Pat8
PubMed: Villacis 2017
-
-
-
Brazil
-
-
-
-
-
1
Mamata Sivagnanam
+/.
_1
c.-25189_-2353del
NM_002354.2:r.-358_555::r.212_*279
p.?
Parent #1
-
pathogenic
g.47605142_47627978del
g.47378003_47400839del
c.555+894_*14194del
-
EPCAM_000002
linked family, 22.8 Kb deletion; fusion transcript EPCAM/MSH2; MSH2 promoter methylation; haplotype differs from FamHK-A
PubMed: Ligtenberg 2009
-
-
Germline
yes
-
-
-
-
DNA, RNA
MLPA, PCR, RT-PCR, SEQ
-
-
CRC
-
PubMed: Ligtenberg et al., 2009
3-generation family, 3 affecteds
-
-
China
-
-
-
-
-
3
Johan den Dunnen
+/.
_1
c.-25189_-2353del
r.-125_211delinsNM_002354.2:-358_555]
p.?
Parent #1
-
pathogenic
g.47605142_47627978del
g.47378003_47400839del
c.555+894_*14194del
-
EPCAM_000002
haplotype differs from FamHK-A; fusion transcript EPCAM/MSH2
PubMed: Ligtenberg 2009
-
-
Germline
-
-
-
-
-
DNA
MLPA, PCR, SEQ
-
-
CRC
-
PubMed: Ligtenberg et al., 2009
-
-
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_3i
c.-19886_646-254del
r.0?
p.0?
Unknown
-
pathogenic (dominant)
g.47610449_47639303del
g.47383310_47412164del
-
-
EPCAM_000062
28854 bp deletion +_AluY to +_AluSx
PubMed: Perez-Cabornero 2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
HNPCC8
21791569-VA-25
PubMed: Perez-Cabornero 2011
-
-
-
Spain
-
-
-
-
-
1
Mamata Sivagnanam
+/.
_1
c.-19488_-14580del
r.[NM_002354.2:r.-358_858::212_*279, NM_002354.2:r.-358_858::-4237_-4127ins212_*279]
p.?
Parent #1
-
pathogenic
g.47610843_47615751del
g.47383704_47388612del
-
-
EPCAM_000001
4909 bp deletion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; fusion transcript EPCAM/MSH2; MSH2 variants in tumor
PubMed: Ligtenberg 2009
-
-
Germline
yes
-
-
-
-
DNA, RNA
MLPA, RT-PCR, SEQ
-
-
CRC
-
PubMed: Ligtenberg et al., 2009
5-generation family, 7 affecteds
-
-
Netherlands
-
-
-
-
-
7
Johan den Dunnen
+/.
_1
c.-19488_-14580del
r.?
p.?
Parent #1
-
pathogenic
g.47610843_47615751del
g.47383704_47388612del
-
-
EPCAM_000001
4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes
PubMed: Ligtenberg 2009
-
-
Germline
yes
-
-
-
-
DNA
MLPA, SEQ
-
-
CRC
-
PubMed: Ligtenberg et al., 2009
-
-
-
Netherlands
-
-
-
-
-
1
Johan den Dunnen
+/.
_1
c.-19488_-14580del
r.?
p.?
Parent #1
-
pathogenic
g.47610843_47615751del
g.47383704_47388612del
c.859-1462_*1999del
-
EPCAM_000001
4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; wt allele lost in tumor
PubMed: Ligtenberg 2009
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
CRC
-
PubMed: Ligtenberg et al., 2009
-
-
-
Netherlands
-
-
-
-
-
1
Johan den Dunnen
+/.
_1
c.-19488_-14580del
r.?
p.?
Parent #1
-
pathogenic
g.47610843_47615751del
g.47383704_47388612del
c.859-1462_*1999del
-
EPCAM_000001
4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes
PubMed: Ligtenberg 2009
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
CRC
-
PubMed: Ligtenberg et al., 2009
-
-
-
Netherlands
-
-
-
-
-
1
Johan den Dunnen
+/.
_1
c.-19488_-14580del
r.?
p.?
Unknown
-
pathogenic
g.47610843_47615751del
g.47383704_47388612del
MSH2:c.373C>T + EPCAM:c.859-1462_*1999del
-
EPCAM_000001
-
Mensenkamp and Ligtenberg
-
-
Germline
-
-
-
-
-
DNA
SEQ, MLPA
-
-
?
-
{microatt:1002906, Mensenkamp and Ligtenberg}
-
M
-
-
-
-
-
-
-
1
INSiGHT group
+/+
1_6i
c.-11844_1077-6021delinsN[155]
r.spl?
p.(=)
Unknown
-
pathogenic
g.47618487_47650860delinsN[155]
-
-
-
MSH2_001602
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1_6i
c.-11844_1077-6021delinsN[155]
r.spl
p.(=)
Unknown
-
pathogenic
g.47618487_47650860delinsN[155]
-
del ex1_6, 32372 bp
-
MSH2_001602
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern, SEQ
-
-
?
-
PubMed: van der Klift 2005
-
?
-
Italy
-
-
-
-
-
1
Juul Wijnen
+/.
1_6i
c.-11844_1077-6021delinsN[155]
r.spl
p.(=)
Unknown
-
pathogenic
g.47618487_47650860delinsN[155]
-
del ex1_6, 32372 bp
-
MSH2_001602
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern, SEQ
-
-
?
-
PubMed: van der Klift 2005
-
?
-
Italy
-
-
-
-
-
1
Juul Wijnen
+/.
1_6i
c.-11844_1077-6021delinsN[155]
r.spl
p.(=)
Unknown
-
pathogenic
g.47618487_47650860delinsN[155]
-
Deletion of Exon 1-6; g.26440374_26472747 (del 32373 + ins 155)
-
MSH2_001602
-
PubMed: Stella 2007
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_6i
c.-11844_1077-6021delinsN[155]
r.spl
p.(=)
Unknown
-
pathogenic
g.47618487_47650860delinsN[155]
-
Deletion of Exon 1-6; g.26440374_26472747del32373+ins155
-
MSH2_001602
-
PubMed: Stella 2007
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_6i
c.-11844_1077-6021delinsN[155]
r.spl
p.(=)
Unknown
-
pathogenic
g.47618487_47650860delinsN[155]
-
Deletion of Exon 1-6
-
MSH2_001602
-
PubMed: Barana 2004
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/+
1_2i
c.-4729_367-353del
r.?
p.?
Unknown
-
pathogenic
g.47625603_47636881del
g.47398464_47409742del
-
-
MSH2_000862
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1_2i
c.-4729_367-353del
r.?
p.?
Unknown
-
pathogenic
g.47625603_47636881del
g.47398464_47409742del
Deletion of Exon 1-2
-
MSH2_000862
-
PubMed: Pyatt 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_2i
c.-4729_367-353del
r.?
p.?
Unknown
-
pathogenic
g.47625603_47636881del
g.47398464_47409742del
Deletion of Exon 1-2, g.26441535_26452813del11279 (NT_022184)
-
MSH2_000862
-
PubMed: Nakagawa 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/+
1_3i
c.-1753_645+922del
r.spl
p.?
Unknown
-
pathogenic
g.47628578_47638433del
g.47401439_47411294del
-
-
MSH2_001625
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1_3i
c.-1753_645+922del
r.spl
p.(=)
Unknown
-
pathogenic
g.47628578_47638433del
g.47401439_47411294del
Deletion of Exon 1-3; g.26444511_26454366 (del 9855)
-
MSH2_001625
-
PubMed: Stella 2007
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_3i
c.-1753_645+922del
r.spl
p.(=)
Unknown
-
pathogenic
g.47628578_47638433del
g.47401439_47411294del
Deletion of Exon 1-3; g.2644511_26454366del9855
-
MSH2_001625
-
PubMed: Stella 2007
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/+
1_6i
c.-956_1077-5607del
r.spl?
p.(=)
Unknown
-
pathogenic
g.47629375_47651274del
g.47402236_47424135del
-
-
MSH2_001603
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1_6i
c.-956_1077-5607del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629375_47651274del
g.47402236_47424135del
del ex1_6, 21899 bp
-
MSH2_001603
-
PubMed: van der Klift 2005 ; PubMed: Wagner 2003
-
-
Germline
-
-
-
-
-
DNA
Southern, SEQ
-
-
?
-
PubMed: van der Klift 2005
-
?
-
United States
Jewish
-
-
-
-
1
Juul Wijnen
+/+
1_6i
c.-823_1076+5984del
r.spl?
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
-
-
MSH2_001604
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1_6i
c.-823_1076+5984del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
del ex1_6, 20045 bp
-
MSH2_001604
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern, SEQ
-
-
?
-
PubMed: van der Klift 2005
-
?
-
United States
Jewish
-
-
-
-
1
Juul Wijnen
+/.
1_6i
c.-823_1076+5984del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
del ex1_6, 20045 bp
-
MSH2_001604
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern, SEQ
-
-
?
-
PubMed: van der Klift 2005
-
?
-
United States
Jewish
-
-
-
-
1
Juul Wijnen
+/.
1_6i
c.-823_1076+5984del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
del ex1_6, 20045 bp
-
MSH2_001604
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern, SEQ
-
-
?
-
PubMed: van der Klift 2005
-
?
-
United States
Jewish
-
-
-
-
1
Juul Wijnen
+/.
1_6i
c.-823_1076+5984del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
del ex1_6, 20045 bp
-
MSH2_001604
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern, SEQ
-
-
?
-
PubMed: van der Klift 2005
-
?
-
United States
Jewish
-
-
-
-
1
Juul Wijnen
+/.
1_6i
c.-823_1076+5984del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
del ex1_6, 20045 bp
-
MSH2_001604
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern, SEQ
-
-
?
-
PubMed: van der Klift 2005
-
?
-
United States
Jewish
-
-
-
-
1
Juul Wijnen
+/.
1_6i
c.-823_1076+5984del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
del ex1_6, 20045 bp
-
MSH2_001604
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern, SEQ
-
-
?
-
PubMed: van der Klift 2005
-
?
-
United States
Jewish
-
-
-
-
1
Juul Wijnen
+/.
1_6i
c.-823_1076+5984del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
del ex1_6, 20045 bp
-
MSH2_001604
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern, SEQ
-
-
?
-
PubMed: van der Klift 2005
-
?
-
United States
Jewish
-
-
-
-
1
Juul Wijnen
+/.
1_6i
c.-823_1076+5984del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
Deletion of Exon 1-6, g.5330483_5349647del19165 (NT_034483)
-
MSH2_001604
-
PubMed: Lynch 2004
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_6i
c.-823_1076+5984del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
Deletion of Exon 1-6, g.26445441_26465485del20045 (NT_022184)
-
MSH2_001604
-
PubMed: Nakagawa 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_6i
c.-823_1076+5984del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
Deletion of Exon 1-6
-
MSH2_001604
-
PubMed: Baudhuin 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_6i
c.-823_1076+5984del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
Deletion of Exon 1-6
-
MSH2_001604
-
PubMed: Lynch 2006
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_6i
c.-823_1076+5984del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
Deletion of Exon 1-6; g.26445441_26465485del20045
-
MSH2_001604
-
PubMed: Hampel 2006
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_6i
c.-823_1076+5984del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
Deletion of Exon 1-6
-
MSH2_001604
-
PubMed: Clendenning 2008 ; PubMed: Hampel 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_6i
c.-823_1076+5984del
r.spl
p.(=)
Unknown
-
pathogenic
g.47629509_47649553del
g.47402370_47422414del
Deletion of Exon 1-6
-
MSH2_001604
-
PubMed: Wagner 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
-/-
1
c.-433T>G
r.(?)
p.(=)
Unknown
InSiGHT
benign
g.47629898T>G
g.47402759T>G
-
-
MSH2_001224
Insight class: 1
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-433T>G
r.(?)
p.(=)
Unknown
-
VUS
g.47629898T>G
g.47402759T>G
-
-
MSH2_001224
-
PubMed: Schafmayer 2007
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.-433T>G
r.(?)
p.(=)
Unknown
-
VUS
g.47629898T>G
g.47402759T>G
-
-
MSH2_001224
-
-
-
rs1863332
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/?
1
c.-225G>C
r.(?)
p.(=)
Unknown
-
VUS
g.47630106G>C
g.47402967G>C
-
-
MSH2_001140
Insight class: 3
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-225G>C
r.(?)
p.(=)
Unknown
-
VUS
g.47630106G>C
g.47402967G>C
-
-
MSH2_001140
Functional studies indicated that activity increased by 466%
PubMed: Shin 2002
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.-225G>C
r.(?)
p.(=)
Unknown
-
VUS
g.47630106G>C
g.47402967G>C
-
-
MSH2_001140
Gene regulation defect
PubMed: Shin 2004
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/?
1
c.-190C>T
r.(?)
p.(=)
Unknown
-
VUS
g.47630141C>T
g.47403002C>T
-
-
MSH2_001054
Insight class: 3
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-190C>T
r.(?)
p.(=)
Unknown
-
VUS
g.47630141C>T
g.47403002C>T
-
-
MSH2_001054
Authors describe this as a gene regulation defect
PubMed: Shin 2004
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.-190C>T
r.(?)
p.(=)
Unknown
-
VUS
g.47630141C>T
g.47403002C>T
-
-
MSH2_001054
Functional studies indicated that activity decreased by 77%
PubMed: Shin 2002
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.-185C>A
r.(?)
p.(=)
Unknown
-
VUS
g.47630146C>A
g.47403007C>A
-
-
MSH2_001590
-
-
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
CRC
-
-
moderately differentiated tumor;InSiGHT LOVDv2 ID:1017196;
M
-
Brazil
-
-
-
-
-
1
Tatiane Pastor
-?/.
-
c.-158G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.47630173G>A
-
-
-
MSH2_002502
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-140G>T
r.(?)
p.(=)
Unknown
-
VUS
g.47630191G>T
g.47403052G>T
-
-
MSH2_000112
-
-
-
-
Unknown
-
-
-
-
-
DNA
?
-
-
cancer, breast
-
-
4 pat cousins with breast cancer >50; pat aunt with brain ? age
-
-
-
-
-
-
-
-
1
InSiGHT - John-Paul Plazzer
+/+
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
-
-
MSH2_000040
Insight class: 5
InSiGHT
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
1-?_211+?del
-
MSH2_000040
Submitted by ICCon South Australia
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
Submitted by ICCON South Australia
-
-
Australia
-
-
-
-
-
1
ICCon
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
1-?_211+?del
-
MSH2_000040
Submitted by ICCon South Australia
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
Submitted by ICCON South Australia
-
-
Australia
-
-
-
-
-
1
ICCon
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
-
-
MSH2_000040
Submitted by ICCon South Australia
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
Submitted by ICCON South Australia
-
-
Australia
-
-
-
-
-
1
ICCon
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
del ex1, >19kb
-
MSH2_000040
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
?
-
PubMed: van der Klift 2005
-
?
-
Netherlands
-
-
-
-
-
1
Juul Wijnen
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
del ex1, >19kb
-
MSH2_000040
-
PubMed: Wijnen 1998 , PubMed: van der Klift 2005 , PubMed: Wagner 2002
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
?
-
PubMed: Wijnen , 1998 , PubMed: van der Klift 2005 , PubMed: Wagner,A. 2002
-
?
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
del ex1, >19kb
-
MSH2_000040
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
?
-
PubMed: van der Klift 2005
-
?
-
Germany
-
-
-
-
-
1
Juul Wijnen
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
del at least 15 kb upstream exon 1_ exon 1
-
MSH2_000040
-
-
-
-
Germline
-
-
-
-
-
DNA
Southern, MLPA
-
-
?
-
-
-
?
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
del at least 15 kb upstream exon 1 and exon 2
-
MSH2_000040
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
?
-
-
-
?
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
del ex01
-
MSH2_000040
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
CRC
-
-
-
?
-
Germany
-
-
-
-
-
1
Peter Propping, Prof. Dr. med.
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
del ex01
-
MSH2_000040
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
CRC
-
-
-
?
-
Germany
-
-
-
-
-
1
Peter Propping, Prof. Dr. med.
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
del ex01
-
MSH2_000040
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
CRC
-
-
-
?
-
Germany
-
-
-
-
-
1
Peter Propping, Prof. Dr. med.
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
ex01del
-
MSH2_000040
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
HNPCC
-
-
-
?
-
Germany
-
-
-
-
-
1
Beate Dr. Betz
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Promoter - Exon 1
-
MSH2_000040
-
PubMed: Becouarn 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
-
-
MSH2_000040
-
PubMed: Wijnen 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
?
-
Netherlands
-
-
-
-
-
1
INSiGHT group
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
1-?_211+?del (Del ex01)
-
MSH2_000040
Maternal Inferred
José Luis Soto
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
cancer, endometrial
-
-
-
F
-
-
-
-
-
-
-
1
INSiGHT group
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
(?_-68)_211+?del
-
MSH2_000040
-
Mark Jenkins; John Hopper
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
2 families: segregation LR 1.7 [Aus CCFR]
-
-
-
-
-
-
-
-
1
INSiGHT group
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
(?_-68)_211+?del
-
MSH2_000040
1x male 41 y synchr. CC Coecum+C.ascendens, MSI-H, IHC loss of MSH2 + MSH6, MLH1 positive, Bethesda-pos.
Elke Holinski-Feder and Monika Morak
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
-
-
-
-
-
-
1
INSiGHT group
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Grabowski 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Wijnen 1998
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Charbonnier 2002
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Wagner 2002
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Wang 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Taylor 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Bunyan 2004
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Huang 2004
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Mangold 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Wehner 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Akrami 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Mangold 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
Authors describe the 26bp Alu core sequence as being located 66bp downstream from the breakpoint.
PubMed: Charbonnier 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
Authors describe the 26bp Alu core sequence as being located 43bp downstream from the breakpoint.
PubMed: Charbonnier 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
Authors describe the 26bp Alu core sequence as being located at the breakpoint.
PubMed: Charbonnier 2005
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Ponti 2006
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Naseem 2006
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Di Fiore 2004
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Overbeek 2007
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_1i
c.(?_-125)_(211+1_212-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_47630206)_(47630542_47635539)del
-
Deletion of Exon 1
-
MSH2_000040
-
PubMed: Ponz de Leon 2007
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods