PMS1
Chr 2PMS1 homolog 1, mismatch repair system component
Also known as: HNPCC3, MLH2, PMSL1, hPMS1
This protein is involved in DNA mismatch repair and can form heterodimers with MLH1. Mutations cause hereditary nonpolyposis colorectal cancer type 3 (Lynch syndrome), which follows autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants, suggesting that complete loss of protein function is likely pathogenic.
Refuted — evidence has disproved this relationship
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PMS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
KPMNG Study of MOlecular Profiling Guided Therapy Based on Genomic Alterations in Advanced Solid Tumors II
RECRUITINGThe Cancer of the Pancreas Screening-5 CAPS5)Study
RECRUITINGTAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer
RECRUITINGExternal Resources
Links to major genomics databases and tools