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.1094ˆ1095G>A
r.(?)
p.(Trp365*)
Unknown
-
VUS
g.48026216ˆ48026217G>A
-
p.Trp365X
-
MSH6_000934
identified in a glioblastoma multiforme tumour sample
PubMed: Maxwell 2008
-
-
Somatic
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
-
c.-20409965_*14047182dup
r.0?
p.0?
Unknown
-
VUS
g.27600408_62081181dup
-
chr2:2760040862081181
-
FSHR_000025
-
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
1
c.-13022_-1711del
r.?
p.?
Unknown
-
VUS
g.47997351_48008662del
g.47770212_47781523del
-
-
MSH6_000012
Insight class: 3
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-13022_-1711del
r.?
p.?
Unknown
-
VUS
g.47997351_48008662del
g.47770212_47781523del
-
-
MSH6_000012
-
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
Southern, PCR
-
-
?
-
PubMed: van der Klift, H.2005
-
?
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/+
1_2i
c.-11863_457+1921del
r.?
p.?
Unknown
-
pathogenic
g.47998510_48020183del
g.47771371_47793044del
-
-
MSH6_000002
Insight class: 5
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1_2i
c.-11863_457+1921del
r.?
p.?
Parent #1
-
pathogenic
g.47998510_48020183del
g.47771371_47793044del
-
-
MSH6_000002
21.6 Kb deletion exon 1-2
PubMed: van der Klift 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
PubMed: van der,Klift H. 2005
-
?
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/+
1_2i
c.-3097_457+2010del
r.?
p.?
Unknown
-
pathogenic
g.48007276_48020272del
g.47780137_47793133del
-
-
MSH6_000003
Insight class: 5
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1_2i
c.-3097_457+2010del
r.?
p.?
Unknown
-
pathogenic
g.48007276_48020272del
g.47780137_47793133del
-
-
MSH6_000003
13.0 Kb deletion promoter to exon 2
PubMed: Plaschke 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
1_2i
c.-3097_457+2010del
r.?
p.?
Unknown
-
pathogenic
g.48007276_48020272del
g.47780137_47793133del
-
-
MSH6_000003
13.0 Kb deletion promoter to exon 2
PubMed: Plaschke 2004
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
-/-
1
c.-557T>G
r.(=)
p.(=)
Unknown
-
benign
g.48009816T>G
g.47782677T>G
-
-
MSH6_000597
Insight class: 1
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-557T>G
r.(=)
p.(=)
Parent #2
-
VUS
g.48009816T>G
g.47782677T>G
-556G>T (rs3136228)
-
MSH6_000597
-
PubMed: Tulupova 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.-557T>G
r.(=)
p.(=)
Parent #1
-
VUS
g.48009816T>G
g.47782677T>G
-556G>T (rs3136228)
-
MSH6_000597
-
PubMed: Tulupova 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.-557T>G
r.(=)
p.(=)
Unknown
-
VUS
g.48009816T>G
g.47782677T>G
-556G>T
-
MSH6_000597
-
PubMed: Gazzoli 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.-557T>G
r.(=)
p.(=)
Unknown
-
VUS
g.48009816T>G
g.47782677T>G
-556G>T (rs3136228)
-
MSH6_000597
-
PubMed: Tulupova 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
-/.
-
c.-448G>A
r.(=)
p.(=)
Parent #1
-
benign
g.48009925G>A
g.47782786G>A
-
-
MSH6_000591
found homozygeous; c.-159C>T und c.-448G>A
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
-/-
1
c.-448G>A
r.(=)
p.(=)
Unknown
-
benign
g.48009925G>A
g.47782786G>A
-
-
MSH6_000591
Insight class: 1
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-448G>A
r.(=)
p.(=)
Unknown
-
VUS
g.48009925G>A
g.47782786G>A
-
-
MSH6_000591
Functional studies indicate Inactivation of two splice1 sites; Authors describe this as a polymorphism
PubMed: Gazzoli 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
-/-
1
c.-210C>T
r.(=)
p.(=)
Unknown
-
benign
g.48010163C>T
g.47783024C>T
-
-
MSH6_000429
Insight class: 1
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-210C>T
r.(=)
p.(=)
Unknown
-
VUS
g.48010163C>T
g.47783024C>T
-
-
MSH6_000429
Functional studies indicate Inactivation of splice1 site
PubMed: Gazzoli 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
-/-
1
c.-159C>T
r.(=)
p.(=)
Unknown
-
benign
g.48010214C>T
g.47783075C>T
-
-
MSH6_000401
Insight class: 1
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-159C>T
r.(=)
p.(=)
Parent #2
-
VUS
g.48010214C>T
g.47783075C>T
-
-
MSH6_000401
-
PubMed: Mrkonjic 2007
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.-159C>T
r.(=)
p.(=)
Parent #1
-
VUS
g.48010214C>T
g.47783075C>T
-
-
MSH6_000401
-
PubMed: Mrkonjic 2007
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.-159C>T
r.(=)
p.(=)
Unknown
-
VUS
g.48010214C>T
g.47783075C>T
-
-
MSH6_000401
-
PubMed: Peterlongo 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.-159C>T
r.(=)
p.(=)
Unknown
-
VUS
g.48010214C>T
g.47783075C>T
-
-
MSH6_000401
-
PubMed: Mrkonjic 2007
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
-/.
-
c.-159C>T
r.(?)
p.(=)
Unknown
-
benign
g.48010214C>T
-
-
-
MSH6_000401
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.(?_-152)_ (260+1_261-1)del
r.?
p.?
Unknown
-
pathogenic
g.(?_48010221)_(48010633_48018065)del
-
1-?_ 260 +?del
-
MSH6_000174
-
PubMed: Ziada-Bouchaar 2016
-
-
Germline
-
-
-
-
-
DNA
?
-
-
CRC
-
PubMed: Ziada-Bouchaar 2016
-
F
-
Algeria
Algerian
-
-
-
-
1
Ziada-Bouchaar Hadia
?/.
_1_1i
c.(?_-152)_(260+1_261-1)del
r.?
p.?
Unknown
-
VUS
g.(?_48010221)_(48010633_48018065)del
-
-
-
MSH6_000174
Not classified
DUPLICATE – to be removed
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_1i
c.(?_-152)_(260+1_261-1)del
r.?
p.?
Unknown
-
pathogenic
g.(?_48010221)_(48010633_48018065)del
-
(?_-152)_260+?del/Del exon 1
-
MSH6_000174
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
Thomas Hansen
+/+
_1_2i
c.(?_-152)_(457+1_458-1)del
r.?
p.?
Unknown
-
pathogenic
g.(?_48010221)_(48018263_48023032)del
-
-
-
MSH6_000001
Insight class: 5
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_2i
c.(?_-152)_(457+1_458-1)del
r.?
p.?
Unknown
-
pathogenic
g.(?_48010221)_(48018263_48023032)del
-
1-?_475+?del
-
MSH6_000001
deletion of exon 1-2
PubMed: Kets 2006
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_2i
c.(?_-152)_(457+1_458-1)del
r.?
p.?
Unknown
-
pathogenic
g.(?_48010221)_(48018263_48023032)del
-
-
-
MSH6_000001
-
PubMed: Overbeek 2007
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_2i
c.(?_-152)_(457+1_458-1)del
r.?
p.?
Unknown
-
pathogenic
g.(?_48010221)_(48018263_48023032)del
-
1-?_457+?del
-
MSH6_000001
deletion of 21.6 kb around exon 1+2, in cis with c.2008G>A,p.Gly670Arg
Carli Tops
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
-
-
-
-
-
-
1
INSiGHT group
+/.
_1_2i
c.(?_-152)_(457+1_458-1)del
r.?
p.?
Unknown
-
pathogenic
g.(?_48010221)_(48018263_48023032)del
-
MSH6:(?_-152)_457+?del breakpoint not tested
-
MSH6_000001
-
Daniela Barana
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
-
M
-
-
-
-
-
-
-
1
INSiGHT group
+/+
_1_10_
c.(?_-152)_(*93_?)del
r.?
p.?
Unknown
-
pathogenic
g.(?_48010221)_(48034092_?)del
-
-
-
MSH6_000911
Insight class: 5
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_10_
c.(?_-152)_(*93_?)del
r.?
p.?
Unknown
-
pathogenic
g.(?_48010221)_(48034092_?)del
-
-
-
MSH6_000911
deletion entire gene
PubMed: Nilbert 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+?/.
_1_10_
c.(?_-152)_(*93_?)del
r.?
p.?
Unknown
-
likely pathogenic
g.(?_48010221)_(48034092_?)del
-
-
-
MSH6_000911
-
-
-
-
Germline
-
-
-
-
-
DNA
IHC, MLPA
-
-
cancer, endometrial
-
-
-
F
-
-
-
-
-
-
-
1
Amanda Spurdle
+/.
_1_10_
c.(?_-152)_(*93_?)del
r.?
p.?
Unknown
-
pathogenic
g.(?_48010221)_(48034092_?)del
-
del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6
-
MSH6_000911
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA, MAPH
-
-
?
-
-
child, mental retardation;InSiGHT LOVDv2 ID:10396;
?
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/.
_1_10_
c.(?_-152)_(*93_?)del
r.?
p.?
Unknown
-
pathogenic
g.(?_48010221)_(48034092_?)del
-
(?_-152)_(*93_?)del/Del exon 1-10
-
MSH6_000911
-
{PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915}
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
Thomas Hansen
?/.
1
c.-118G>A
r.(=)
p.(=)
Unknown
-
VUS
g.48010255G>A
g.47783116G>A
-
-
MSH6_000121
Not classified
DUPLICATE – to be removed
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-118G>A
r.(=)
p.(=)
Unknown
-
VUS
g.48010255G>A
g.47783116G>A
-118G>A
-
MSH6_000121
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
Thomas Hansen
?/.
1
c.-118G>A
r.(=)
p.(=)
Unknown
-
VUS
g.48010255G>A
g.47783116G>A
-118G>A
-
MSH6_000121
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
Thomas Hansen
-?/.
-
c.-118G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.48010255G>A
-
-
-
MSH6_000121
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/-?
1
c.-88G>A
r.(=)
p.(=)
Unknown
-
likely benign
g.48010285G>A
g.47783146G>A
-
-
MSH6_000792
Insight class: 2
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-88G>A
r.(=)
p.(=)
Unknown
-
VUS
g.48010285G>A
g.47783146G>A
-
-
MSH6_000792
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
-
F
-
Estonia
-
-
-
-
-
1
Hanno Roomere
+?/.
1_1i
c.-49_260+563del
r.?
p.?
Unknown
ACMG
likely pathogenic (dominant)
g.48010324_48011195del
g.47783185_47784056del
-
-
MSH6_011053
ACMG: PM2_SUP, PVS1_STR, PP4; seq[GRCh37] 2p16.3p16.3(47710138x2,48010323_48011195x1,48016525x2)
NC_000002.11:g.(47710139_48010323)_(48011195_48016524)del
PMID: 32658311, 27468915
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
-
-
HNPCC5
212667
-
-
M
no
Germany
-
-
-
-
-
1
Andreas Laner
?/?
1
c.-18G>T
r.(=)
p.(=)
Unknown
-
VUS
g.48010355G>T
g.47783216G>T
-
-
MSH6_000006
Insight class: 3
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-18G>T
r.(=)
p.(=)
Unknown
-
VUS
g.48010355G>T
g.47783216G>T
-
-
MSH6_000006
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
?
-
Netherlands
-
-
-
-
-
1
Carli Tops
?/.
1
c.-18G>T
r.(=)
p.(=)
Unknown
-
VUS
g.48010355G>T
g.47783216G>T
-
-
MSH6_000006
-
PubMed: Lamberti 2006
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
-?/.
-
c.-18G>T
r.(?)
p.(=)
Unknown
-
likely benign
g.48010355G>T
g.47783216G>T
MSH6(NM_000179.3):c.-18G>T
-
MSH6_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-18G>T
r.(?)
p.(=)
Unknown
-
likely benign
g.48010355G>T
-
MSH6(NM_000179.3):c.-18G>T
-
MSH6_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-18G>T
r.(?)
p.(=)
Unknown
-
likely benign
g.48010355G>T
-
MSH6(NM_000179.3):c.-18G>T
-
MSH6_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
1
c.-8C>T
r.(=)
p.(=)
Unknown
-
VUS
g.48010365C>T
g.47783226C>T
-
-
MSH6_000770
Insight class: 3
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-8C>T
r.(=)
p.(=)
Unknown
-
VUS
g.48010365C>T
g.47783226C>T
-
-
MSH6_000770
-
-
-
-
Germline
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
CRC
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Bert Redeker
+/.
-
c.(?_-1)_(457+1_458-1)del
p.(?)
p.(?)
Unknown
-
pathogenic
g.(?_48010372)_(48018263_48023032)del
-
-
-
MSH6_011055
-
-
-
-
Germline
-
-
-
-
-
DNA
MIPsm
-
-
MMRCS
-
-
-
M
-
Netherlands
-
-
-
-
-
1
Richarda M de Voer
+/.
_1_3i
c.(?_-1)_(645+1_646-1)del
r.?
p.0?
Unknown
-
pathogenic
g.?
-
1?_645+?del
-
MSH6_000893
Submitter has reported the nomenclature for deletion of MSH2 exon 1 to 3 not MSH6
-
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
cancer, endometrial
-
-
-
F
-
Spain
-
-
-
-
-
1
José Luis Soto
?/.
_1_6i
c.(?_-1)_(3556+1_3557-1)del
r.?
p.?
Unknown
-
VUS
g.(?_48010373)_(48032167_48032756)del
-
-
-
MSH6_000084
-
DUPLICATE – to be removed
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_6i
c.(?_-1)_(3556+1_3557-1)del
r.?
p.?
Unknown
-
pathogenic
g.(?_48010373)_(48032167_48032756)del
-
-
-
MSH6_000084
Submitted by ICCon South Australia
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
Submitted by ICCON South Australia
-
-
Australia
-
-
-
-
-
1
ICCon
?/.
_1_2i
c.(?_1)_(457+1_458-1)del
r.?
p.?
Unknown
-
VUS
g.(?_48010373)_(48018263_48023032)del
-
-
-
MSH6_000042
-
DUPLICATE – to be removed
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_2i
c.(?_1)_(457+1_458-1)del
r.?
p.?
Unknown
-
pathogenic
g.(?_48010373)_(48018263_48023032)del
-
-
-
MSH6_000042
ICCON data, Westmead, NSW
-
-
-
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.2T>A
r.?
p.(Met1?)
Unknown
-
likely pathogenic
g.48010374T>A
g.47783235T>A
-
-
MSH6_010967
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
year test performed: 2019, 7 gene 'Lynch-like' panel includes MLH1, MSH2, MSH6 and PMS2
?
-
-
-
M
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
Treena Cranston
+?/+?
1
c.3G>T
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.48010375G>T
g.47783236G>T
-
-
MSH6_000056
Insight class: 4
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.3G>T
r.(?)
p.(Met1?)
Unknown
-
pathogenic
g.48010375G>T
g.47783236G>T
-
-
MSH6_000056
Proband also carries the MSH6 VLP p.R1242H in trans with p.M1? and the MSH6 VLB p.N21K in cis with p.M1?
-
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?, CRC
-
-
mat great uncle stomach ca at 50, mother colon polyps (carries p.M1? and p.N21K VLB). Proband also carries the MSH6 VLP p.R1242H in trans with p.M1? and the MSH6 VLB p.N21K in cis with p.M1?.
M
-
United States
white
-
-
-
-
1
InSiGHT - John-Paul Plazzer
+/.
1
c.3G>T
r.(?)
p.(Met1?)
Unknown
-
pathogenic
g.48010375G>T
g.47783236G>T
-
-
MSH6_000056
Proband also carries the MSH6 VLB p.N21K
-
-
-
Germline
-
-
-
-
-
DNA
?
-
-
cancer, endometrial
-
-
mother endometrial ca in 40s and CRC at 73 and pancreatic ca at 77, mat aunt CRC at 70, mat uncle prostate at 70, MGM endometrial ca at 70; MGF CRC at 70.
F
-
United States
white
-
-
-
-
1
InSiGHT - John-Paul Plazzer
+/.
1
c.3G>T
r.(?)
p.(Met1?)
Unknown
-
pathogenic
g.48010375G>T
g.47783236G>T
-
-
MSH6_000056
-
-
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?, cancer, endometrial
-
-
mat aunt contralateral breast ca at 59 and 66, father might have had CRC but this was never formally dx (he just had symptoms), sister endometrial ca at 63
F
-
United States
white
-
-
-
-
1
InSiGHT - John-Paul Plazzer
+/.
1
c.3G>T
r.(?)
p.(Met1?)
Unknown
-
pathogenic
g.48010375G>T
g.47783236G>T
-
-
MSH6_000056
co-occurrence with MSH2 c.408DELT mutation
-
-
-
Germline
-
-
-
-
-
DNA
?
-
-
cancer, rectal
-
-
Brother- prostate @ 50s, lymphoma @ 50s; Father- renal @ 55, CRC @ 59; Pat aunt- PSU @ 20s; Pat aunt- PSU @ 70s; Pat uncle- PSU @ 70; Pat 1st cousin- breast @ 28; PGF- CRC @ 60s, bladder @ 60s
M
-
United States
white
-
-
-
-
1
InSiGHT - John-Paul Plazzer
+/.
1
c.23_26del
r.(?)
p.Tyr8SerfsTer8
Unknown
-
pathogenic
g.48010395_48010398del
g.47783256_47783259del
23_26delACAG
-
MSH6_000913
WT MaxEntScan score: 7.38; Variant MaxEntScan score: 7.38; Difference in MaxEntScan score between variant and WT (%): 0
PubMed: Rossi 2017
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
PubMed: Rossi 2017
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
-
-
Brazil
-
-
-
-
-
1
Mev Dominguez Valentin
+/.
-
c.27_39del
r.(?)
p.(Phe10LeufsTer4)
Unknown
-
pathogenic
g.48010399_48010411del
g.47783260_47783272del
27_39delCTTCTTCCCCAAG
-
MSH6_011005
-
PubMed: Jiang 2022
-
-
Germline/De novo (untested)
-
1/486 cases
-
-
-
DNA
SEQ-NG
-
81-gene panel
cancer, colon
369781
PubMed: Jiang 2022
analysis 486 colorectal cancer patients
M
-
China
-
-
-
-
-
1
Johan den Dunnen
?/?
1
c.38A>C
r.(?)
p.(Lys13Thr)
Unknown
-
VUS
g.48010410A>C
g.47783271A>C
-
-
MSH6_000033
Insight class: 3
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.38A>C
r.(?)
p.(Lys13Thr)
Unknown
-
VUS
g.48010410A>C
g.47783271A>C
K13T
-
MSH6_000033
0/1104 controls
PubMed: Barnetson 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
HNPCC
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.38A>C
r.(?)
p.(Lys13Thr)
Unknown
-
NA
g.48010410A>C
g.47783271A>C
K13T
-
MSH6_000033
ClustalW AA not conserved
PubMed: Barnetson 2008
-
-
In silico
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.38A>C
r.(?)
p.(Lys13Thr)
Unknown
-
NA
g.48010410A>C
g.47783271A>C
K13T
-
MSH6_000033
PolyPhen possibly damaging
PubMed: Barnetson 2008
-
-
In silico
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.38A>C
r.(?)
p.(Lys13Thr)
Unknown
-
NA
g.48010410A>C
g.47783271A>C
K13T
-
MSH6_000033
SIFT score intolerant
PubMed: Barnetson 2008
-
-
In silico
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.39G>T
r.(?)
p.(Lys13Asn)
Unknown
-
VUS
g.48010411G>T
-
-
-
MSH6_011027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.44C>T
r.(?)
p.Pro15Leu
Unknown
-
VUS
g.48010416C>T
g.47783277C>T
44C>T
-
MSH6_000914
WT MaxEntScan score: 7.38; Variant MaxEntScan score: 7.38; Difference in MaxEntScan score between variant and WT (%): 0
ClinVar, PubMed: Rossi 2017
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
ClinVar, PubMed: Rossi 2017
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
-
-
Uruguay
-
-
-
-
-
1
Mev Dominguez Valentin
?/.
1
c.44C>T
r.(?)
p.(Pro15Leu)
Unknown
-
VUS
g.48010416C>T
g.47783277C>T
-
-
MSH6_000914
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
year test performed: 2018, Panel including MLH1, MSH2, MSH6, PMS2
CRC
-
-
Selection criteria for proband testing: IHC
M
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
Treena Cranston
-/.
-
c.59C>T
r.(?)
p.(Ala20Val)
Parent #1
-
benign
g.48010431C>T
g.47783292C>T
-
-
MSH6_000591
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
HNPCC
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
-?/.
-
c.59C>T
r.(?)
p.(Ala20Val)
Unknown
-
likely benign
g.48010431C>T
g.47783292C>T
MSH6(NM_000179.2):c.59C>T (p.(Ala20Val)), MSH6(NM_000179.3):c.59C>T (p.A20V)
-
MSH6_000591
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/-?
1
c.59C>T
r.(?)
p.(Ala20Val)
Unknown
-
likely benign
g.48010431C>T
g.47783292C>T
-
-
MSH6_000591
Insight class: 2
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.59C>T
r.(?)
p.(Ala20Val)
Unknown
-
VUS
g.48010431C>T
g.47783292C>T
-
-
MSH6_000591
-
PubMed: Charames 2000
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.59C>T
r.(?)
p.(Ala20Val)
Unknown
-
VUS
g.48010431C>T
g.47783292C>T
-
-
MSH6_000591
-
PubMed: Nilbert 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.59C>T
r.(?)
p.(Ala20Val)
Unknown
-
VUS
g.48010431C>T
g.47783292C>T
59C>T
-
MSH6_000591
-
{PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915}
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
Thomas Hansen
?/.
1
c.59C>T
r.(?)
p.(Ala20Val)
Unknown
-
VUS
g.48010431C>T
g.47783292C>T
59C>T
-
MSH6_000591
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
Thomas Hansen
?/.
1
c.59C>T
r.(?)
p.(Ala20Val)
Unknown
-
NA
g.48010431C>T
g.47783292C>T
59C>T
-
MSH6_000591
MMR activity
Drost Hum Mutat 2012 33: 488-494.
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.59C>T
r.(?)
p.(Ala20Val)
Unknown
-
likely benign
g.48010431C>T
g.47783292C>T
MSH6(NM_000179.2):c.59C>T (p.(Ala20Val)), MSH6(NM_000179.3):c.59C>T (p.A20V)
-
MSH6_000591
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.59C>T
r.(?)
p.(Ala20Val)
Unknown
-
likely benign
g.48010431C>T
-
MSH6(NM_000179.2):c.59C>T (p.(Ala20Val)), MSH6(NM_000179.3):c.59C>T (p.A20V)
-
MSH6_000591
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
1
c.62A>G
r.(?)
p.(Asn21Ser)
Unknown
-
VUS
g.48010434A>G
g.47783295A>G
-
-
MSH6_000606
Insight class: 3
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.62A>G
r.(?)
p.(Asn21Ser)
Unknown
-
VUS
g.48010434A>G
g.47783295A>G
-
-
MSH6_000606
-
PubMed: Nilbert 2008 ,PubMed: Okkels 2012
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.63C>G
r.(?)
p.(Asn21Lys)
Unknown
-
VUS
g.48010435C>G
g.47783296C>G
-
-
MSH6_000058
-
DUPLICATE – to be removed
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
1
c.63C>G
r.(?)
p.(Asn21Lys)
Unknown
-
likely benign
g.48010435C>G
g.47783296C>G
-
-
MSH6_000058
Proband also carries the MSH6 VLP p.R1242H in trans with p.M1? and the MSH6 VLB p.N21K in cis with p.M1?
-
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?, CRC
-
-
mat great uncle stomach ca at 50, mother colon polyps (carries p.M1? and p.N21K VLB). Proband also carries the MSH6 VLP p.R1242H in trans with p.M1? and the MSH6 VLB p.N21K in cis with p.M1?.
M
-
United States
white
-
-
-
-
1
InSiGHT - John-Paul Plazzer
-?/.
1
c.63C>G
r.(?)
p.(Asn21Lys)
Unknown
-
likely benign
g.48010435C>G
g.47783296C>G
-
-
MSH6_000058
-
-
-
-
Germline
-
-
-
-
-
DNA
?
-
-
cancer, endometrial
-
-
mother endometrial ca in 40s and CRC at 73 and pancreatic ca at 77, mat aunt CRC at 70, mat uncle prostate at 70, MGM endometrial ca at 70; MGF CRC at 70.
F
-
United States
white
-
-
-
-
1
InSiGHT - John-Paul Plazzer
+/.
1
c.71C>A
r.(?)
p.(Ser24*)
Unknown
-
pathogenic
g.48010443C>A
g.47783304C>A
-
-
MSH6_001168
MSH6 with c.71C>A was found in patient with endometrioid endometrial cancer related Lynch syndrome.
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
-
PKU-pat2
-
MSH6 with c.71C>A was found in petient with endometrioid endometrial cancer related Lynch syndrome.
F
-
China
Chinese
>58y
-
-
-
1
Caixia Ren
-/.
-
c.73G>T
r.(?)
p.(Ala25Ser)
Parent #1
-
benign
g.48010445G>T
g.47783306G>T
-
-
MSH6_000615
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
-?/.
-
c.73G>T
r.(?)
p.(Ala25Ser)
Unknown
-
likely benign
g.48010445G>T
g.47783306G>T
MSH6(NM_000179.2):c.73G>T (p.A25S), MSH6(NM_000179.3):c.73G>T (p.A25S)
-
MSH6_000615
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.73G>T
r.(?)
p.(Ala25Ser)
Unknown
-
VUS
g.48010445G>T
g.47783306G>T
MSH6(NM_000179.2):c.73G>T (p.A25S), MSH6(NM_000179.3):c.73G>T (p.A25S)
-
MSH6_000615
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.73G>T
r.(?)
p.(Ala25Ser)
Unknown
-
VUS
g.48010445G>T
g.47783306G>T
MSH6(NM_000179.2):c.73G>T (p.A25S), MSH6(NM_000179.3):c.73G>T (p.A25S)
-
MSH6_000615
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.73G>T
r.(?)
p.(Ala25Ser)
Unknown
-
VUS
g.48010445G>T
g.47783306G>T
MSH6(NM_000179.2):c.73G>T (p.A25S), MSH6(NM_000179.3):c.73G>T (p.A25S)
-
MSH6_000615
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.73G>T
r.(?)
p.(Ala25Ser)
Unknown
-
likely benign
g.48010445G>T
g.47783306G>T
MSH6(NM_000179.2):c.73G>T (p.A25S), MSH6(NM_000179.3):c.73G>T (p.A25S)
-
MSH6_000615
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
1
c.73G>T
r.(?)
p.(Ala25Ser)
Unknown
-
VUS
g.48010445G>T
g.47783306G>T
-
-
MSH6_000615
Insight class: 3
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.73G>T
r.(?)
p.(Ala25Ser)
Unknown
-
VUS
g.48010445G>T
g.47783306G>T
-
-
MSH6_000615
-
PubMed: Nilbert 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/.
1
c.73G>T
r.(?)
p.(Ala25Ser)
Unknown
-
VUS
g.48010445G>T
g.47783306G>T
-
-
MSH6_000615
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Ans M.W. van den Ouweland