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rs63749932

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
(T;T) 6 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
ReferenceGRCh38 38.1/141
Chromosome2
Position47476399
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749932
ebirs63749932
HLIrs63749932
Exacrs63749932
Varsomers63749932
Maprs63749932
PheGenIrs63749932
hapmaprs63749932
1000 genomesrs63749932
hgdprs63749932
ensemblrs63749932
gopubmedrs63749932
geneviewrs63749932
scholarrs63749932
googlers63749932
pharmgkbrs63749932
gwascentralrs63749932
openSNPrs63749932
23andMers63749932
23andMe allrs63749932
SNP Nexus

SNPshotrs63749932
SNPdbers63749932
MSV3drs63749932
GWAS Ctlgrs63749932
Max Magnitude6

rs63749932 is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC).[PMID 9718327OA-icon.png]

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 rs63749932(G,T;G,T)
Alt rs63749932(G,T;G,T)
Reference rs63749932(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome not provided
Variation info
Gene MSH2
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome not provided
Reversed 0
HGVS NC_000002.11:g.47703538C>G; NC_000002.11:g.47703538C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000165747.1, RCV000030248.4, RCV000115515.5, RCV000202174.2,


[PMID 9718327OA-icon.png] Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.

[PMID 11601928] Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer.

[PMID 11854906] Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families.

[PMID 16807412] Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.

[PMID 17229076] Switching from tacrolimus to sirolimus halts the appearance of new sebaceous neoplasms in Muir-Torre syndrome.