A25G (p.Ala25Gly) variant of MSH6 (DNA mismatch repair protein Msh6)
A25G (p.Ala25Gly) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The record also includes published literature and structural context.
A25G (p.Ala25Gly) variant details
- p.Ala25Gly
- rs35462442
- ClinGen CA346734790
- ClinVar RCV001187885
- ClinVar RCV002559997
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance (in dbSNP:rs35462442)
- UniProt: Uncertain significance (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)