rs63749932
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6 | Lynch syndrome; pathogenic mutation |
| (T;T) | 6 | Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47476399 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63749932 |
| dbSNP (classic) | rs63749932 |
| ClinGen | rs63749932 |
| ebi | rs63749932 |
| HLI | rs63749932 |
| Exac | rs63749932 |
| Gnomad | rs63749932 |
| Varsome | rs63749932 |
| LitVar | rs63749932 |
| Map | rs63749932 |
| PheGenI | rs63749932 |
| Biobank | rs63749932 |
| 1000 genomes | rs63749932 |
| hgdp | rs63749932 |
| ensembl | rs63749932 |
| geneview | rs63749932 |
| scholar | rs63749932 |
| rs63749932 | |
| pharmgkb | rs63749932 |
| gwascentral | rs63749932 |
| openSNP | rs63749932 |
| 23andMe | rs63749932 |
| SNPshot | rs63749932 |
| SNPdbe | rs63749932 |
| MSV3d | rs63749932 |
| GWAS Ctlg | rs63749932 |
| Max Magnitude | 6 |
rs63749932 is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC).[PMID 9718327
]
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 | rs63749932(G;G) Rs63749932(T;T) |
| Alt | rs63749932(G;G) Rs63749932(T;T) |
| Reference | Rs63749932(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome not specified Lynch syndrome not provided |
| Variation | info |
| Gene | MSH2 |
| CLNDBN | Hereditary cancer-predisposing syndrome not specified Lynch syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47703538C>G; NC_000002.11:g.47703538C>T |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000165747.2, RCV000486872.1, RCV000030248.4, RCV000115515.8, RCV000202174.3, |
[PMID 9718327] Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
[PMID 11601928] Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer.
[PMID 11854906] Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families.
[PMID 16807412] Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.
[PMID 17229076] Switching from tacrolimus to sirolimus halts the appearance of new sebaceous neoplasms in Muir-Torre syndrome.
