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rs63750875

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 7 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
(C;G) 6 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome2
Position47475171
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750875
ebirs63750875
HLIrs63750875
Exacrs63750875
Varsomers63750875
Maprs63750875
PheGenIrs63750875
hapmaprs63750875
1000 genomesrs63750875
hgdprs63750875
ensemblrs63750875
gopubmedrs63750875
geneviewrs63750875
scholarrs63750875
googlers63750875
pharmgkbrs63750875
gwascentralrs63750875
openSNPrs63750875
23andMers63750875
23andMe allrs63750875
SNP Nexus

SNPshotrs63750875
SNPdbers63750875
MSV3drs63750875
GWAS Ctlgrs63750875
Max Magnitude7

rs63750875 is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC).[PMID 10528862OA-icon.png] The origin of this mutation appears to be in a population of Ashkenazi Jews.

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]

See also OMIM 609309.0012

OMIM609309
Desc
Variant0012
Relatedalso


ClinVar
Risk rs63750875(C;C)
Alt rs63750875(C;C)
Reference rs63750875(G;G)
Significance Pathogenic
Disease Colorectal cancer Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MSH2
CLNDBN Colorectal cancer, hereditary, nonpolyposis, type 1 Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000002.11:g.47702310G>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000001834.2, RCV000030245.6, RCV000130428.4, RCV000202220.2,



[PMID 15516] Characterization of chicken liver dihydrofolate reductase after purification by affinity chromatography and isoelectric focusing.

[PMID 17414604OA-icon.png] Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management.

[PMID 19101824] Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.

[PMID 19267393OA-icon.png] Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.

[PMID 20850175] The rate of the predominant Jewish mutations in the BRCA1, BRCA2, MSH2 and MSH6 genes in unselected Jewish endometrial cancer patients.

[PMID 21419771] High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mutation.