S28A (p.Ser28Ala) variant of MSH6 (DNA mismatch repair protein Msh6)
S28A (p.Ser28Ala) 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 nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The record also includes published literature and structural context.
S28A (p.Ser28Ala) variant details
- p.Ser28Ala
- rs1223620783
- ClinGen CA346734802
- ClinVar RCV001939118
- ClinVar RCV002425270
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)