PMS1 Chromosome 2
PMS1 homolog 1, mismatch repair system component
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What This Gene Does
This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
MutL homologs
Locus Type
gene with protein product
Location
2q32.2
Ensembl
ENSG00000064933
Associated Conditions (3)
Ovarian cancer
Lynch syndrome 1
Colorectal cancer
Key Variants
RS571235425
Conflicting classifications of pathogenicity
Ovarian cancer, Lynch syndrome 1, Ovarian cancer
Health Risk
RS111254723
Likely pathogenic
Ovarian cancer, Ovarian cancer
Health Risk
RS139414606
Likely pathogenic
Ovarian cancer, Ovarian cancer
Health Risk
RS2057666079
Pathogenic
Colorectal cancer, Colorectal cancer
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS571235425 | Health Risk | Conflicting classifications of pathogenicity | Ovarian cancer, Lynch syndrome 1, Ovarian cancer |
| RS111254723 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS139414606 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS2057666079 | Health Risk | Pathogenic | Colorectal cancer, Colorectal cancer |