Have questions? Visit https://www.reddit.com/r/SNPedia

rs63750245

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Lynch syndrome allele
(T;T) 7 Lynch syndrome; hereditary nonpolyposis colorectal cancer-1
ReferenceGRCh38 38.1/141
Chromosome2
Position47416383
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750245
ebirs63750245
HLIrs63750245
Exacrs63750245
Varsomers63750245
Maprs63750245
PheGenIrs63750245
hapmaprs63750245
1000 genomesrs63750245
hgdprs63750245
ensemblrs63750245
gopubmedrs63750245
geneviewrs63750245
scholarrs63750245
googlers63750245
pharmgkbrs63750245
gwascentralrs63750245
openSNPrs63750245
23andMers63750245
23andMe allrs63750245
SNP Nexus

SNPshotrs63750245
SNPdbers63750245
MSV3drs63750245
GWAS Ctlgrs63750245
Merged fromRs193922371
Max Magnitude7

rs63750245, also known as Q344X, is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC).[PMID 12655568]

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]


ClinVar
Risk rs63750245(A,T;A,T)
Alt rs63750245(A,T;A,T)
Reference rs63750245(C;C)
Significance Pathogenic
Disease Lynch syndrome I Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome I Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47643522C>A; NC_000002.11:g.47643522C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000144617.1, RCV000030234.3,



[PMID 12655568] Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia.


[PMID 15571801] Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.


[PMID 18772310] Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.