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rs2020912

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 2.5 unclear if associated with hereditary nonpolyposis colorectal cancer (HNPCC5)
(T;T) 0 common in clinvar


Make rs2020912(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position47800616
GeneMSH6
is asnp
is mentioned by
dbSNPrs2020912
ebirs2020912
HLIrs2020912
Exacrs2020912
Varsomers2020912
Maprs2020912
PheGenIrs2020912
hapmaprs2020912
1000 genomesrs2020912
hgdprs2020912
ensemblrs2020912
gopubmedrs2020912
geneviewrs2020912
scholarrs2020912
googlers2020912
pharmgkbrs2020912
gwascentralrs2020912
openSNPrs2020912
23andMers2020912
23andMe allrs2020912
SNP Nexus

SNPshotrs2020912
SNPdbers2020912
MSV3drs2020912
GWAS Ctlgrs2020912
GMAF0.005051
Max Magnitude2.5

rs2020912 is a SNP in the MSH6 gene on chromosome 2, which (as a gene) has been associated with hereditary nonpolyposis colorectal cancer (HNPCC).

It is not clear whether this variant predisposes individuals to cancers such as colorectal cancer. In ClinVar, some entries list it as pathogenic, most list it as benign, and one lists it as likely to be benign.

Even so, 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 600678.0006

? (C;C) (C;T) (T;T) 28
OMIM600678
Desc
Variant0006
Relatedalso


ClinVar
Risk rs2020912(C,G;C,G)
Alt rs2020912(C,G;C,G)
Reference rs2020912(T;T)
Significance Other
Disease Hereditary nonpolyposis colorectal cancer type 5 Lynch syndrome not provided not specified Colorectal / endometrial cancer Hereditary cancer-predisposing syndrome
Variation info
Gene MSH6
CLNDBN Hereditary nonpolyposis colorectal cancer type 5 Lynch syndrome not provided not specified Colorectal / endometrial cancer Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.48027755T>C; NC_000002.11:g.48027755T>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000009486.4, RCV000030264.5, RCV000034495.3, RCV000121581.2, RCV000148644.1, RCV000157763.3, RCV000074769.2,



[PMID 19389263OA-icon.png] Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.


[PMID 11709755OA-icon.png] Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.


[PMID 16885385] Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.


[PMID 16940983OA-icon.png] MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease.


[PMID 18415027] Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.


[PMID 18790734OA-icon.png] Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding.