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
+/.
5i_6i
c.(537+1_538-1)_(705+1_706-1)
r.?
p?
Unknown
-
pathogenic
g.(6037055_6038738)_(6038907_6042083)del
-
-
-
PMS2_000293
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
cancer, endometrial
-
-
-
F
-
Spain
-
-
-
-
-
1
José Luis Soto
-/-
_1
c.-2559T>A
r.(?)
p.(=)
Unknown
-
benign
g.6051209A>T
g.6011578A>T
-
-
PMS2_000158
Insight class: 1
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-2559T>A
r.(=)
p.(=)
Unknown
-
VUS
g.6051209A>T
g.6011578A>T
-
-
PMS2_000158
-2472 from transcription start site
PubMed: Jeske 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
-/-
_1
c.-2146C>A
r.(?)
p.(=)
Unknown
-
benign
g.6050796G>T
g.6011165G>T
-
-
PMS2_000136
Insight class: 1
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-2146C>A
r.(=)
p.(=)
Unknown
-
VUS
g.6050796G>T
g.6011165G>T
-
-
PMS2_000136
-2059 from the transcription start site
PubMed: Jeske 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/?
_1
c.-963A>G
r.(?)
p.(=)
Unknown
-
VUS
g.6049613T>C
g.6009982T>C
-
-
PMS2_000199
Insight class: 3
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-963A>G
r.(?)
p.(=)
Unknown
-
VUS
g.6049613T>C
g.6009982T>C
-
-
PMS2_000199
-876 from the transcription start site; allele possibly playing a functional role in familial hyperaldosteronism type II (FH-II)
PubMed: Jeske 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/?
_1
c.-340G>T
r.(?)
p.(=)
Unknown
-
VUS
g.6048990C>A
g.6009359C>A
-
-
PMS2_000001
Insight class: 3
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-340G>T
r.(?)
p.(=)
Unknown
-
VUS
g.6048990C>A
g.6009359C>A
-
-
PMS2_000001
-
PubMed: Hendriks 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
-
?
-
-
-
-
-
-
-
1
Juul Wijnen
-/-
_1
c.-323G>T
r.(?)
p.(=)
Unknown
-
benign
g.6048973C>A
g.6009342C>A
-
-
PMS2_000002
Insight class: 1
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-323G>T
r.(=)
p.(=)
Unknown
-
VUS
g.6048973C>A
g.6009342C>A
-
-
PMS2_000002
-
PubMed: Hendriks 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
-
?
-
-
-
-
-
-
-
1
Juul Wijnen
-/-
_1
c.-195T>C
r.(?)
p.(=)
Unknown
-
benign
g.6048845A>G
g.6009214A>G
-
-
PMS2_000003
Insight class: 1
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-195T>C
r.(=)
p.(=)
Unknown
-
VUS
g.6048845A>G
g.6009214A>G
-
-
PMS2_000003
-
PubMed: Hendriks 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
-
?
-
-
-
-
-
-
-
1
Juul Wijnen
?/.
_1
c.-195T>C
r.(=)
p.(=)
Unknown
-
VUS
g.6048845A>G
g.6009214A>G
-
-
PMS2_000003
-
PubMed: Thompson 2004
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
-/-
_1
c.-154C>G
r.(?)
p.(=)
Unknown
-
benign
g.6048804G>C
g.6009173G>C
-
-
PMS2_000004
Insight class: 1
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1
c.-154C>G
r.(?)
p.(=)
Parent #1
-
benign
g.6048804G>C
g.6009173G>C
-
-
PMS2_000004
-
contributed by Dept. of Dr Vaccaro
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
contributed by Dept. of Dr Vaccaro
-
-
-
Argentina
-
-
-
-
-
1
CEMIC - Genotyping - Angela Solano
-/.
1
c.-154C>G
r.(?)
p.(=)
Parent #1
-
benign
g.6048804G>C
g.6009173G>C
-
-
PMS2_000004
-
contributed by Dept. of Dr Vaccaro
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
contributed by Dept. of Dr Vaccaro
-
-
-
Argentina
-
-
-
-
-
1
CEMIC - Genotyping - Angela Solano
-/.
1
c.-154C>G
r.(?)
p.(=)
Parent #1
-
benign
g.6048804G>C
g.6009173G>C
-
-
PMS2_000004
-
contributed by Dept. of Dr Vaccaro
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
contributed by Dept. of Dr Vaccaro
-
-
-
Argentina
-
-
-
-
-
1
CEMIC - Genotyping - Angela Solano
-/.
1
c.-154C>G
r.(?)
p.(=)
Parent #1
-
benign
g.6048804G>C
g.6009173G>C
-
-
PMS2_000004
-
contributed by Dept. of Dr Vaccaro
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
contributed by Dept. of Dr Vaccaro
-
-
-
Argentina
-
-
-
-
-
1
CEMIC - Genotyping - Angela Solano
?/.
_1
c.-154C>G
r.(=)
p.(=)
Unknown
-
VUS
g.6048804G>C
g.6009173G>C
-
-
PMS2_000004
-
PubMed: Hendriks 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
-
?
-
-
-
-
-
-
-
1
Juul Wijnen
?/.
_1
c.-154C>G
r.(=)
p.(=)
Unknown
-
VUS
g.6048804G>C
g.6009173G>C
-
-
PMS2_000004
-
PubMed: Thompson 2004
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
-/.
-
c.-154C>G
r.(?)
p.(=)
Unknown
-
benign
g.6048804G>C
g.6009173G>C
-
-
PMS2_000004
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
cancer, colon
contributed by Dept. of Dr Vaccaro
-
-
-
-
Argentina
-
-
-
-
-
1
Carlos Vaccaro
-/.
-
c.-154C>G
r.(?)
p.(=)
Unknown
-
benign
g.6048804G>C
g.6009173G>C
-
-
PMS2_000004
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
cancer, colon
contributed by Dept. of Dr Vaccaro
-
-
-
-
Argentina
-
-
-
-
-
1
Carlos Vaccaro
?/.
_1
c.-120del
r.(?)
p.(=)
Unknown
-
VUS
g.6048773del
g.6009142del
-
-
PMS2_000052
-
PubMed: Miyaki 1997
-
-
Somatic
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
?/?
_1
c.-101A>G
r.(?)
p.(=)
Unknown
-
VUS
g.6048751T>C
g.6009120T>C
-
-
PMS2_000005
Insight class: 3
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-101A>G
r.(?)
p.(=)
Unknown
-
VUS
g.6048751T>C
g.6009120T>C
-
-
PMS2_000005
-
PubMed: Hendriks 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
-
?
-
-
-
-
-
-
-
1
Juul Wijnen
-/-
_1
c.-93G>A
r.(?)
p.(=)
Unknown
-
benign
g.6048743C>T
g.6009112C>T
-
-
PMS2_000241
Insight class: 1
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
_1
c.-93G>A
r.(=)
p.(=)
Unknown
-
likely benign
g.6048743C>T
g.6009112C>T
-
-
PMS2_000241
allele is trancsribed
-
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
CRC
-
-
-
M
-
-
North African
-
-
-
-
1
Carli Tops
-/.
1
c.-93G>C
r.(?)
p.(=)
Parent #1
-
benign
g.6048743C>G
g.6009112C>G
-
-
PMS2_000448
-
contributed by Dept. of Dr Vaccaro
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
contributed by Dept. of Dr Vaccaro
-
-
-
Argentina
-
-
-
-
-
1
CEMIC - Genotyping - Angela Solano
-/.
-
c.-93G>C
r.(?)
p.(=)
Unknown
-
benign
g.6048743C>G
-
-
-
PMS2_000448
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-93G>T
r.(?)
p.(=)
Unknown
-
benign
g.6048743C>A
-
-
-
AIMP2_000014
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1i_2i
c.(?_-87)_(23+1_24-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(6045663_6048627)_(6048737_?)del
-
-
-
PMS2_000044
Insight class: 5
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.(?_-87)_(23+1_24-1)del
r.(?)
p.?
Unknown
-
pathogenic
g.(6045663_6048627)_(6048737_?)del
-
Deletion of Exon 1
-
PMS2_000044
-
PubMed: Senter 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/+
_1_10i
c.(?_-87)_(1144+1_1145-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(6027252_6029430)_(6048737_?)del
-
-
-
PMS2_000179
Insight class: 5
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_10i
c.(?_-87)_(1144+1_1145-1)del
r.(?)
p.?
Unknown
-
pathogenic
g.(6027252_6029430)_(6048737_?)del
-
del ex01-10
-
PMS2_000179
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
CRC
-
-
-
?
-
Germany
-
-
-
-
-
1
Peter Propping, Prof. Dr. med.
+/.
_1_10i
c.(?_-87)_(1144+1_1145-1)del
r.(?)
p.?
Parent #1
-
pathogenic
g.(6027252_6029430)_(6048737_?)del
-
ex01_ex10del
-
PMS2_000179
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
HNPCC
-
-
-
?
-
Germany
-
-
-
-
-
1
Beate Dr. Betz
+/.
_1_12i
c.(?_-87)_(2174+1_2175-1)del
r.?
p.?
Unknown
-
pathogenic
g.(6018328_6022454)_(6048737_?)del
-
c.-87-?_2174+?del/Del exon 1-12
-
PMS2_000366
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
Thomas Hansen
+/.
_1_14i
c.(?_-87)_(2445+1_2446-1)del
r.?
p.?
Unknown
-
pathogenic
g.(6013174_6017218)_(6048737_?)del
-
c.-87-?_2445+?del /Deletion af exon 1-14
-
PMS2_000367
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
Thomas Hansen
+/+
_1_15_
c.(?_-87)_(*160_?)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_6012870)_(6048737_?)del
-
-
-
PMS2_000007
Insight class: 5
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_15_
c.(?_-87)_(*160_?)del
r.(?)
p.?
Unknown
-
pathogenic
g.(?_6012870)_(6048737_?)del
-
del ex1_15
-
PMS2_000007
-
PubMed: van der Klift 2005 , PubMed: Hendriks 2006
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
CRC
-
-
-
?
-
Netherlands
-
-
-
-
-
1
Juul Wijnen
+/.
_1_15_
c.(?_-87)_(*160_?)del
r.(?)
p.?
Parent #1
-
pathogenic
g.(?_6012870)_(6048737_?)del
-
Deletion of Exon 1-15
-
PMS2_000007
-
PubMed: Senter 2008 ; PubMed: Tomsic 2012
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_15_
c.(?_-87)_(*160_?)del
r.(?)
p.?
Unknown
-
pathogenic
g.(?_6012870)_(6048737_?)del
-
Deletion of Exon 1-15
-
PMS2_000007
-
PubMed: Senter 2008 ; PubMed: Tomsic 2012
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_15_
c.(?_-87)_(*160_?)del
r.(?)
p.?
Unknown
-
pathogenic
g.(?_6012870)_(6048737_?)del
-
deletion of Exon1-15 and duplication of 3' related gene (c.1-?_2589?del).
-
PMS2_000007
-
PubMed: Hendriks 2006
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_15_
c.(?_-87)_(*160_?)del
r.(?)
p.?
Unknown
-
pathogenic
g.(?_6012870)_(6048737_?)del
-
Deletion of PMS2
-
PMS2_000007
-
PubMed: Overbeek 2007 ; PubMed: Tomsic 2012
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+/.
_1_15_
c.(?_-87)_(*160_?)del
r.(?)
p.?
Unknown
-
pathogenic
g.(?_6012870)_(6048737_?)del
-
del ex 1-15, dupPMS2CL
-
PMS2_000007
-
PubMed: van der Klift 2010
-
-
Germline
-
-
-
-
-
DNA
MLPA, Southern
-
-
CRC
-
-
-
F
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/.
_1_15_
c.(?_-87)_(*160_?)del
r.(?)
p.?
Unknown
-
pathogenic
g.(?_6012870)_(6048737_?)del
-
PMS2 exon 1-15 del
-
PMS2_000007
-
PubMed: Thompson 2013 ; PubMed: Tomsic 2012 ; PubMed: Senter 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
-
-
-
-
-
-
1
Mark Jenkins
+/.
_1_15_
c.(?_-87)_(*160_?)del
r.(?)
p.?
Unknown
-
pathogenic
g.(?_6012870)_(6048737_?)del
-
MLH1:c.198C>T; PMS2:c.(?_-87)_(*160_?)del
-
PMS2_000007
-
Mark Jenkins
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
-
-
-
-
-
-
-
-
1
INSiGHT group
+/.
_1_15_
c.(?_-87)_(*160_?)del
r.?
p.?
Unknown
-
pathogenic
g.(?_6012870)_(6048737_?)del
-
c.1-?_2586+?del Whole gene deletion
-
PMS2_000007
-
PubMed: Lagerstedt-Robinson 2016
-
-
Germline
-
-
-
-
-
DNA
?
-
-
HNPCC
-
PubMed: Lagerstedt-Robinson 2016
-
-
-
Sweden
-
-
-
-
-
1
Kristina Lagerstedt Robinson
?/.
1
c.-77del
r.(?)
p.(=)
Unknown
-
VUS
g.6048727del
g.6009096del
-
-
PMS2_000374
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I
-
-
HNPCC
-
-
-
-
-
Brazil
-
-
-
-
-
1
Courtney Forgeng
?/.
1
c.-53G>A
r.(=)
p.(=)
Unknown
-
VUS
g.6048703C>T
g.6009072C>T
c.-53G>A
-
PMS2_000375
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
Thomas Hansen
-/.
-
c.-53G>A
r.(?)
p.(=)
Unknown
-
benign
g.6048703C>T
-
-
-
PMS2_000375
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-43A>G
r.(?)
p.(=)
Unknown
-
likely benign
g.6048693T>C
g.6009062T>C
-
-
AIMP2_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
10i_15_
c.(1144+1_1145-1)_*160{0}
r.?
p.?
Unknown
ACMG
likely pathogenic
g.(?_5996249)_(6027252_6029430)del
g.(?_5956618)_(5987621_5989799)del
del ex11-15
-
PMS2_000512
deletion PMS2 NG_008466.1(NM_000535.5):c.(1144+1_1145-1)_(*16781_?)del
PubMed: Arnold 2020
-
-
Germline
?
-
-
-
-
DNA
MLPA, SEQ-NG-I
germline
-
HNPCC
72394
PubMed: Arnold 2020
-
F
?
Germany
Germany
-
-
-
-
1
Andreas Laner
+?/.
_1_10i
c.-87_(1144+1_1145-1){0}
r.0?
p.0?
Unknown
ACMG
likely pathogenic
g.(6027252_6029430)_(6078750_?)del
g.(5987621_5989799)_(6039119_?)del
del ex 1-10 c.(?_-30100)_(144+1_145-1)del
-
PMS2_001010
-
PubMed: Arnold 2020
-
-
Germline
?
-
-
-
-
DNA
MLPA, SEQ-NG-I
germline
-
HNPCC
49738
PubMed: Arnold 2020
-
F
?
Germany
Germany
-
-
-
-
1
Andreas Laner
?/.
1
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
VUS
g.6048650T>C
g.6009019T>C
-
-
PMS2_000256
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
-
adenocarcinoma colon and caecum
4x CRC in family (incl 2 in index), 3 confirmed PMS2-def (incl 2 in index), MSI-high
M
-
Netherlands
-
-
-
-
-
1
Arjen Mensenkamp
+?/.
-
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.6048650T>C
g.6009019T>C
PMS2(NM_001322014.1):c.1A>G (p.M1?)
-
PMS2_000256
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.1A>G
r.(?)
p.(Met1?)
Parent #1
-
likely pathogenic
g.6048650T>C
g.6009019T>C
-
-
PMS2_000256
-
PubMed: Senter 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+?/.
1
c.1A>G
r.(?)
p.(Met1?)
Parent #1
-
likely pathogenic
g.6048650T>C
g.6009019T>C
-
-
PMS2_000256
-
PubMed: Senter 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+?/.
1
c.1A>G
r.(?)
p.(Met1?)
Parent #1
-
likely pathogenic
g.6048650T>C
g.6009019T>C
-
-
PMS2_000256
-
PubMed: Senter 2008
-
-
Germline
-
-
-
-
-
DNA
?
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
Michael Woods
+?/.
1
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.6048650T>C
g.6009019T>C
-
-
PMS2_000256
-
PubMed: Borras 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, endometrial
-
-
-
?
-
-
-
-
-
-
-
1
Gabriel Capella
+?/.
1
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.6048650T>C
g.6009019T>C
c.1A>G
-
PMS2_000256
-
Mark Jenkins; John Hopper
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
INSiGHT group
+?/.
1
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.6048650T>C
g.6009019T>C
c.1A>G
-
PMS2_000256
-
Mark Jenkins; John Hopper
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
?
-
-
-
-
-
-
-
1
INSiGHT group
+/.
1
c.1A>G
r.(?)
p.(Met1?)
Maternal (confirmed)
-
pathogenic
g.6048650T>C
g.6009019T>C
-
-
PMS2_000256
-
Ian Berry, Leeds Genetics Laboratory
-
-
Germline
-
-
-
-
-
DNA
?
-
-
cancer, brain
-
-
Patient and sister deceased with PNET, suspected CMMRD. Tumours in both found to be negative for PMS2 staining (normal & tumour cells). Compound heterozygosity for c.1A>G and c.137G>T confirmed by parental testing. No known phenotype in parents.;InSiGHT LOVDv2 ID:1017231;
F
-
(United Kingdom (Great Britain))
white
-
-
pedigree
-
1
Ian Berry
+?/.
1
c.1A>G
r.(?)
p.Met1Val
Unknown
-
likely pathogenic
g.6048650T>C
g.6009019T>C
c.1A>G
-
PMS2_000256
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
Thomas Hansen
+/.
1
c.1A>G
r.(?)
p.0?
Unknown
-
pathogenic
g.6048650T>C
g.6009019T>C
-
-
PMS2_000256
ICCON data, Westmead, NSW
-
-
-
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+?
-
c.1A>G
r.(?)
p.(Met1?)
Paternal (inferred)
-
likely pathogenic
g.6048650T>C
g.6009019T>C
-
-
PMS2_000256
Insight class: 4
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG-I
-
-
HNPCC
-
-
-
F
-
Russian Federation
Russian
-
-
-
-
1
Grigorij Yanus
?/.
-
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
VUS
g.6048650T>C
-
PMS2(NM_001322014.1):c.1A>G (p.M1?)
-
PMS2_000256
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1A>G
r.?
p.?
Parent #1
-
NA
g.6048650T>C
-
chr7_6048650_T_C
-
PMS2_000256
the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
6/60466 cases
-
-
-
DNA
SEQ-NG
-
34-gene panel
cancer, breast
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 60466 cases (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
6
BRIDGES consortium
?/.
-
c.1A>G
r.?
p.?
Parent #1
-
NA
g.6048650T>C
-
chr7_6048650_T_C
-
PMS2_000256
the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
3/53461 controls
-
-
-
DNA
SEQ-NG
-
34-gene panel
Healthy/Control
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 53461 controls (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
3
BRIDGES consortium
+?/+?
1
c.2T>A
r.(?)
p.(Met1?)
Unknown
ACMG
likely pathogenic
g.6048649A>T
g.6009018A>T
-
-
PMS2_000017
ACMG grading: PVS1, PM2, PM3, PP4, PP5 class 5 (Literature:PMID 27476653; PMID 26681312; PMID 28466842)
-
-
rs587780059
Germline
?
-
-
-
-
DNA
SEQ-NG-I
-
-
CRC
129643
-
Adeno-Ca at age 40y (pT3, N0, M0), isolated loss of PMS2 in tumor
M
?
Germany
-
-
-
-
-
1
Andreas Laner
?/.
1
c.2T>A
r.(?)
p.0?
Unknown
-
VUS
g.6048649A>T
g.6009018A>T
-
-
PMS2_000017
Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3)
PubMed: Haraldsdottir 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
Imputation of 31.6 million variants based on WGS of 8,453 Icelanders, screen date 2015-01-01
CRC
-
PubMed: Haraldsdottir 2018
-
-
-
Iceland
-
-
-
-
-
1
Sigurdis Haraldsdottir
?/.
1
c.2T>A
r.(?)
p.Met1?
Unknown
-
VUS
g.6048649A>T
g.6009018A>T
-
-
PMS2_000017
Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3)
PubMed: Haraldsdottir 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
Imputation of 31.6 million variants based on WGS of 8,453 Icelanders, screen date 2015-01-01
CRC
-
PubMed: Haraldsdottir 2018
-
-
-
Iceland
-
-
-
-
-
1
Sigurdis Haraldsdottir
?/.
1
c.2T>A
r.(?)
p.Met1?
Unknown
-
VUS
g.6048649A>T
g.6009018A>T
-
-
PMS2_000017
Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3)
PubMed: Haraldsdottir 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
Imputation of 31.6 million variants based on WGS of 8,453 Icelanders, screen date 2015-01-01
CRC
-
PubMed: Haraldsdottir 2018
-
-
-
Iceland
-
-
-
-
-
1
Sigurdis Haraldsdottir
+?/.
-
c.2T>A
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.6048649A>T
g.6009018A>T
PMS2(NM_000535.7):c.2T>A (p.M1?)
-
PMS2_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.2T>A
r.?
p.?
Parent #1
-
NA
g.6048649A>T
-
chr7_6048649_A_T
-
PMS2_000017
not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
2/60466 cases
-
-
-
DNA
SEQ-NG
-
34-gene panel
cancer, breast
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 60466 cases (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
2
BRIDGES consortium
+/.
-
c.2T>A
r.(?)
p.(Met1?)
Unknown
-
pathogenic
g.6048649A>T
-
PMS2(NM_000535.7):c.2T>A (p.M1?)
-
PMS2_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.2T>C
r.?
p.?
Parent #1
-
NA
g.6048649A>G
-
chr7_6048649_A_G
-
PMS2_000995
the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
1/60466 cases
-
-
-
DNA
SEQ-NG
-
34-gene panel
cancer, breast
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 60466 cases (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
1
BRIDGES consortium
?/.
-
c.2T>C
r.?
p.?
Parent #1
-
NA
g.6048649A>G
-
chr7_6048649_A_G
-
PMS2_000995
the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
1/53461 controls
-
-
-
DNA
SEQ-NG
-
34-gene panel
Healthy/Control
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 53461 controls (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
1
BRIDGES consortium
+/.
1
c.3G>A
r.0?
p.0?
Parent #1
-
pathogenic
g.6048648C>T
g.6009017C>T
-
-
PMS2_000388
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
HNPCC
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
?/.
-
c.4dup
r.(?)
p.(Glu2Glyfs*4)
Parent #1
-
NA
g.6048648dup
-
chr7_6048646_T_TC
-
PMS2_000994
not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
1/60466 cases
-
-
-
DNA
SEQ-NG
-
34-gene panel
cancer, breast
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 60466 cases (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
1
BRIDGES consortium
?/.
-
c.4G>A
r.(?)
p.(Glu2Lys)
Parent #1
-
NA
g.6048647C>T
-
chr7_6048647_C_T
-
PMS2_000993
not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
1/60466 cases
-
-
-
DNA
SEQ-NG
-
34-gene panel
cancer, breast
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 60466 cases (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
1
BRIDGES consortium
?/.
-
c.4G>C
r.(?)
p.(Glu2Gln)
Parent #1
-
NA
g.6048647C>G
-
chr7_6048647_C_G
-
PMS2_000992
not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
1/60466 cases
-
-
-
DNA
SEQ-NG
-
34-gene panel
cancer, breast
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 60466 cases (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
1
BRIDGES consortium
?/.
-
c.8G>A
r.(?)
p.(Arg3Gln)
Parent #1
-
NA
g.6048643C>T
-
chr7_6048643_C_T
-
PMS2_000991
not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
1/60466 cases
-
-
-
DNA
SEQ-NG
-
34-gene panel
cancer, breast
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 60466 cases (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
1
BRIDGES consortium
?/.
1
c.11C>G
r.(?)
p.(Ala4Gly)
Unknown
-
VUS
g.6048640G>C
g.6009009G>C
-
-
PMS2_000018
Carrier frequency in Iceland (%): 0.04; Odds ratio for CRC (95%CI): 2.64 (0.62-11.2)
PubMed: Haraldsdottir 2018
-
-
Germline
-
0.04
-
-
-
DNA
?
-
WGS (Illumina) 8,453 Icelanders, irrespective cancer status, mean depth >, 10X, all patients with dMMR CRC diagnosed 2000-2009 germline DNA typed for WGS MMR, when one of three founder mutations was absent WGS performed, screen date 2015-01-01
CRC
-
PubMed: Haraldsdottir 2018
-
-
-
Iceland
-
-
-
-
-
1
Sigurdis Haraldsdottir
?/.
-
c.11C>G
r.(?)
p.(Ala4Gly)
Parent #1
-
NA
g.6048640G>C
-
chr7_6048640_G_C
-
PMS2_000018
the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
1/60466 cases
-
-
-
DNA
SEQ-NG
-
34-gene panel
cancer, breast
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 60466 cases (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
1
BRIDGES consortium
?/.
-
c.11C>G
r.(?)
p.(Ala4Gly)
Parent #1
-
NA
g.6048640G>C
-
chr7_6048640_G_C
-
PMS2_000018
the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
1/53461 controls
-
-
-
DNA
SEQ-NG
-
34-gene panel
Healthy/Control
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 53461 controls (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
1
BRIDGES consortium
?/.
-
c.20C>G
r.(?)
p.(Ser7Trp)
Parent #1
-
NA
g.6048631G>C
-
chr7_6048631_G_C
-
PMS2_000990
the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
2/60466 cases
-
-
-
DNA
SEQ-NG
-
34-gene panel
cancer, breast
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 60466 cases (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
2
BRIDGES consortium
?/.
-
c.20C>G
r.(?)
p.(Ser7Trp)
Parent #1
-
NA
g.6048631G>C
-
chr7_6048631_G_C
-
PMS2_000990
the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
1/53461 controls
-
-
-
DNA
SEQ-NG
-
34-gene panel
Healthy/Control
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 53461 controls (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
1
BRIDGES consortium
?/.
-
c.20C>T
r.(?)
p.(Ser7Leu)
Parent #1
-
NA
g.6048631G>A
-
chr7_6048631_G_A
-
PMS2_000989
not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
1/60466 cases
-
-
-
DNA
SEQ-NG
-
34-gene panel
cancer, breast
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 60466 cases (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
1
BRIDGES consortium
-?/.
-
c.21G>C
r.(?)
p.(Ser7=)
Unknown
-
likely benign
g.6048630C>G
g.6008999C>G
PMS2(NM_000535.7):c.21G>C (p.S7=)
-
PMS2_000424
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.22A>C
r.(?)
p.(Ser8Arg)
Unknown
-
VUS
g.6048629T>G
-
-
-
AIMP2_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.22A>G
r.(?)
p.(Ser8Gly)
Parent #1
-
NA
g.6048629T>C
-
chr7_6048629_T_C
-
PMS2_000988
not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
1/60466 cases
-
-
-
DNA
SEQ-NG
-
34-gene panel
cancer, breast
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 60466 cases (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
1
BRIDGES consortium
+?/.
-
c.23+1G>C
r.spl?
p.?
Unknown
-
likely pathogenic
g.6048627C>G
-
PMS2(NM_000535.5):c.23+1G>C (p.?)
-
AIMP2_000015
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.23+2T>G
r.spl?
p.?
Parent #1
-
NA
g.6048626A>C
-
chr7_6048626_A_C
-
PMS2_000987
not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
PubMed: Dorling 2021 , Journal: Dorling 2021
-
-
Germline
-
1/53461 controls
-
-
-
DNA
SEQ-NG
-
34-gene panel
Healthy/Control
-
PubMed: Dorling 2021 , Journal: Dorling 2021
analysis 53461 controls (BRIDGES)
-
-
-
-
-
-
bcac.ccge.medschl.cam.ac.uk/contact
-
1
BRIDGES consortium
-/.
-
c.23+10G>C
r.(=)
p.(=)
Unknown
-
benign
g.6048618C>G
g.6008987C>G
PMS2(NM_000535.5):c.23+10G>C (p.(=), ), PMS2(NM_000535.7):c.23+10G>C
-
PMS2_000340
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.23+10G>C
r.(=)
p.(=)
Unknown
-
likely benign
g.6048618C>G
g.6008987C>G
PMS2(NM_000535.5):c.23+10G>C (p.(=), ), PMS2(NM_000535.7):c.23+10G>C
-
PMS2_000340
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.23+10G>C
r.(=)
p.(=)
Unknown
-
likely benign
g.6048618C>G
g.6008987C>G
PMS2(NM_000535.5):c.23+10G>C (p.(=), ), PMS2(NM_000535.7):c.23+10G>C
-
PMS2_000340
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.23+10G>C
r.(=)
p.(=)
Unknown
-
likely benign
g.6048618C>G
g.6008987C>G
PMS2(NM_000535.5):c.23+10G>C (p.(=), ), PMS2(NM_000535.7):c.23+10G>C
-
PMS2_000340
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.23+10G>C
r.(=)
p.(=)
Unknown
-
benign
g.6048618C>G
g.6008987C>G
PMS2(NM_000535.5):c.23+10G>C (p.(=), ), PMS2(NM_000535.7):c.23+10G>C
-
PMS2_000340
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
1i
c.23+10G>C
r.(=)
p.(=)
Unknown
-
likely benign
g.6048618C>G
g.6008987C>G
c.23+10G>C
-
PMS2_000340
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
Thomas Hansen