rs63750871
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | Lynch syndrome |
| (C;C) | 0 | common in clinvar |
| (C;T) | 4 | predisposition for mismatch repair cancer syndrome? |
| (T;T) | 6 | predisposition for mismatch repair cancer syndrome? |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 6002590 |
| Gene | PMS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750871 |
| dbSNP (classic) | rs63750871 |
| ClinGen | rs63750871 |
| ebi | rs63750871 |
| HLI | rs63750871 |
| Exac | rs63750871 |
| Gnomad | rs63750871 |
| Varsome | rs63750871 |
| LitVar | rs63750871 |
| Map | rs63750871 |
| PheGenI | rs63750871 |
| Biobank | rs63750871 |
| 1000 genomes | rs63750871 |
| hgdp | rs63750871 |
| ensembl | rs63750871 |
| geneview | rs63750871 |
| scholar | rs63750871 |
| rs63750871 | |
| pharmgkb | rs63750871 |
| gwascentral | rs63750871 |
| openSNP | rs63750871 |
| 23andMe | rs63750871 |
| SNPshot | rs63750871 |
| SNPdbe | rs63750871 |
| MSV3d | rs63750871 |
| GWAS Ctlg | rs63750871 |
| Max Magnitude | 6 |
rs63750871 is a SNP in the PMS2 gene on chromosome 7, associated with mismatch repair cancer syndrome.[PMID 7661930]
Subsequent findings [PMID 15077197
] were consistent with autosomal recessive inheritance for the cancers associated with this SNP, however another study suggested the possibility that a heterozygous genotype for this SNP could act in a dominant-negative manner.{PMID|9488480|OA=1}}
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 600259.0001
| ClinVar | |
|---|---|
| Risk | Rs63750871(T;T) |
| Alt | Rs63750871(T;T) |
| Reference | Rs63750871(C;C) |
| Significance | Pathogenic |
| Disease | Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | PMS2 |
| CLNDBN | Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000007.13:g.6042221G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009815.5, RCV000076872.3, RCV000115695.5, RCV000212842.1, |
