rs63749811
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 5 | Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1) |
| (-;G) | 4 | Lynch syndrome; this mutation may not be fully penetrant |
| (G;G) | 0 | common in clinvar |
| (I;I) | 0 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47476474 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63749811 |
| dbSNP (classic) | rs63749811 |
| ClinGen | rs63749811 |
| ebi | rs63749811 |
| HLI | rs63749811 |
| Exac | rs63749811 |
| Gnomad | rs63749811 |
| Varsome | rs63749811 |
| LitVar | rs63749811 |
| Map | rs63749811 |
| PheGenI | rs63749811 |
| Biobank | rs63749811 |
| 1000 genomes | rs63749811 |
| hgdp | rs63749811 |
| ensembl | rs63749811 |
| geneview | rs63749811 |
| scholar | rs63749811 |
| rs63749811 | |
| pharmgkb | rs63749811 |
| gwascentral | rs63749811 |
| openSNP | rs63749811 |
| 23andMe | rs63749811 |
| SNPshot | rs63749811 |
| SNPdbe | rs63749811 |
| MSV3d | rs63749811 |
| GWAS Ctlg | rs63749811 |
| Max Magnitude | 5 |
rs63749811 is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC).[PMID 8723682]
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 609309.0008
| ClinVar | |
|---|---|
| Risk | Rs63749811(-;-) |
| Alt | Rs63749811(-;-) |
| Reference | Rs63749811(G;G) |
| Significance | Pathogenic |
| Disease | Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | MSH2 |
| CLNDBN | Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47703613delG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001830.2, RCV000030250.3, RCV000223638.1, RCV000482957.1, |
[PMID 8872463] Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
[PMID 10080150] Reduction in hMSH2 mRNA levels by premature translation termination: implications for mutation screening in hereditary nonpolyposis colorectal cancer.
[PMID 16142001] Value of microsatellite instability typing in detecting hereditary non-polyposis colorectal cancer. A prospective multicentric study by the Association Aquitaine Gastro.
