rs2020912
| Orientation | plus |
| Stabilized | plus |
| 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) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47800616 |
| Gene | MSH6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2020912 |
| dbSNP (classic) | rs2020912 |
| ClinGen | rs2020912 |
| ebi | rs2020912 |
| HLI | rs2020912 |
| Exac | rs2020912 |
| Gnomad | rs2020912 |
| Varsome | rs2020912 |
| LitVar | rs2020912 |
| Map | rs2020912 |
| PheGenI | rs2020912 |
| Biobank | rs2020912 |
| 1000 genomes | rs2020912 |
| hgdp | rs2020912 |
| ensembl | rs2020912 |
| geneview | rs2020912 |
| scholar | rs2020912 |
| rs2020912 | |
| pharmgkb | rs2020912 |
| gwascentral | rs2020912 |
| openSNP | rs2020912 |
| 23andMe | rs2020912 |
| SNPshot | rs2020912 |
| SNPdbe | rs2020912 |
| MSV3d | rs2020912 |
| GWAS Ctlg | rs2020912 |
| GMAF | 0.005051 |
| Max Magnitude | 2.5 |
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 23788249
]
See also OMIM 600678.0006
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2020912(C;C) rs2020912(G;G) |
| Alt | rs2020912(C;C) rs2020912(G;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 | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009486.5, RCV000030264.5, RCV000034495.3, RCV000121581.3, RCV000148644.1, RCV000157763.3, RCV000074769.2, |
[PMID 19389263] Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.
[PMID 11709755] 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 16940983] 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 18790734] Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding.
