rs63750245
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6 | Lynch syndrome, pathogenic mutation |
| (T;T) | 7 | Lynch syndrome; hereditary nonpolyposis colorectal cancer-1 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47416383 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750245 |
| dbSNP (classic) | rs63750245 |
| ClinGen | rs63750245 |
| ebi | rs63750245 |
| HLI | rs63750245 |
| Exac | rs63750245 |
| Gnomad | rs63750245 |
| Varsome | rs63750245 |
| LitVar | rs63750245 |
| Map | rs63750245 |
| PheGenI | rs63750245 |
| Biobank | rs63750245 |
| 1000 genomes | rs63750245 |
| hgdp | rs63750245 |
| ensembl | rs63750245 |
| geneview | rs63750245 |
| scholar | rs63750245 |
| rs63750245 | |
| pharmgkb | rs63750245 |
| gwascentral | rs63750245 |
| openSNP | rs63750245 |
| 23andMe | rs63750245 |
| SNPshot | rs63750245 |
| SNPdbe | rs63750245 |
| MSV3d | rs63750245 |
| GWAS Ctlg | rs63750245 |
| Merged from | Rs193922371 |
| Max Magnitude | 7 |
rs63750245, also known as Q344X, is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC).[12655568?dopt=Abstract PMID 12655568]
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
]
| ClinVar | |
|---|---|
| Risk | rs63750245(A;A) Rs63750245(T;T) |
| Alt | rs63750245(A;A) Rs63750245(T;T) |
| Reference | Rs63750245(C;C) |
| Significance | Pathogenic |
| Disease | Lynch syndrome I Lynch syndrome |
| Variation | info |
| Gene | MSH2 |
| CLNDBN | Lynch syndrome I Lynch syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47643522C>A; NC_000002.11:g.47643522C>T |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000144617.1, RCV000030234.3, |
[PMID 12655568] Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia.
[PMID 15571801] Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.
[PMID 18772310] Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.
