rs63750875
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 7 | Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1) |
| (C;G) | 6 | Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1) |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47475171 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750875 |
| dbSNP (classic) | rs63750875 |
| ClinGen | rs63750875 |
| ebi | rs63750875 |
| HLI | rs63750875 |
| Exac | rs63750875 |
| Gnomad | rs63750875 |
| Varsome | rs63750875 |
| LitVar | rs63750875 |
| Map | rs63750875 |
| PheGenI | rs63750875 |
| Biobank | rs63750875 |
| 1000 genomes | rs63750875 |
| hgdp | rs63750875 |
| ensembl | rs63750875 |
| geneview | rs63750875 |
| scholar | rs63750875 |
| rs63750875 | |
| pharmgkb | rs63750875 |
| gwascentral | rs63750875 |
| openSNP | rs63750875 |
| 23andMe | rs63750875 |
| SNPshot | rs63750875 |
| SNPdbe | rs63750875 |
| MSV3d | rs63750875 |
| GWAS Ctlg | rs63750875 |
| Max Magnitude | 7 |
Also known as c.1906G>C, A636P and Ala636Pro, rs63750875 is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC).[PMID 10528862
] The origin of this mutation appears to be in a population of Ashkenazi Jews.
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 609309.0012
| ClinVar | |
|---|---|
| Risk | Rs63750875(C;C) |
| Alt | Rs63750875(C;C) |
| Reference | Rs63750875(G;G) |
| Significance | Pathogenic |
| Disease | Colorectal cancer Lynch syndrome Hereditary cancer-predisposing syndrome not provided Lynch syndrome I |
| Variation | info |
| Gene | MSH2 |
| CLNDBN | Colorectal cancer, hereditary, nonpolyposis, type 1 Lynch syndrome Hereditary cancer-predisposing syndrome not provided Lynch syndrome I |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47702310G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001834.2, RCV000030245.6, RCV000130428.5, RCV000202220.3, RCV000376757.1, |
[PMID 15516] Characterization of chicken liver dihydrofolate reductase after purification by affinity chromatography and isoelectric focusing.
[PMID 17414604] Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management.
[PMID 19101824] Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.
[PMID 19267393] Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
[PMID 20850175] The rate of the predominant Jewish mutations in the BRCA1, BRCA2, MSH2 and MSH6 genes in unselected Jewish endometrial cancer patients.
[PMID 21419771] High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mutation.
