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rs193922376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 Lynch syndrome, pathogenic mutation
Make rs193922376(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47414421
GeneMSH2
is asnp
is mentioned by
dbSNPrs193922376
ebirs193922376
HLIrs193922376
Exacrs193922376
Varsomers193922376
Maprs193922376
PheGenIrs193922376
hapmaprs193922376
1000 genomesrs193922376
hgdprs193922376
ensemblrs193922376
gopubmedrs193922376
geneviewrs193922376
scholarrs193922376
googlers193922376
pharmgkbrs193922376
gwascentralrs193922376
openSNPrs193922376
23andMers193922376
23andMe allrs193922376
SNP Nexus

SNPshotrs193922376
SNPdbers193922376
MSV3drs193922376
GWAS Ctlgrs193922376
Max Magnitude6

rs193922376, also known as c.942+3A>T and c.943+3A>T, is a rare mutation in the MSH2 gene on chromosome 2.

Acting in an autosomal dominant manner, the rs193922376(T) allele is considered pathogenic by multiple sources in ClinVar for Lynch syndrome, a disorder characterized by increased risk for colon cancer and other cancers.

Although still exceedingly rare, this mutation has been cited as perhaps the most common Lynch syndrome mutation. See also OMIM 609309.0011

A private name, i5008753, is used by 23andMe for this SNP instead of it's real (public) name.


ClinVar
Risk rs193922376(T;T)
Alt rs193922376(T;T)
Reference rs193922376(A;A)
Significance Pathogenic
Disease Colorectal cancer Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MSH2
CLNDBN Colorectal cancer, hereditary, nonpolyposis, type 1 Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000002.11:g.47641560A>T
CLNSRC HGMD International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000001833.2, RCV000001844.5, RCV000030256.5, RCV000115549.5, RCV000201997.1,


[PMID 1071222] [Microbiological study of a saline soil, El Salitre].

[PMID 8895729] Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes.

[PMID 9311737OA-icon.png] Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.

[PMID 10882759OA-icon.png] Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.

[PMID 12658575OA-icon.png] Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

[PMID 18270343] The frequency of Muir-Torre syndrome among Lynch syndrome families.