A25P (p.Ala25Pro) variant of MSH6 (DNA mismatch repair protein Msh6)
A25P (p.Ala25Pro) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The record also includes published literature and structural context.
A25P (p.Ala25Pro) variant details
- p.Ala25Pro
- rs267608026
- ClinGen CA346734788
- cosmic curated COSV52278
- ClinVar RCV001327687
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Likely benign (in dbSNP:rs35462442)
- UniProt: Likely benign (in dbSNP:rs35462442)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)