A1162D (p.Ala1162Asp) variant of MSH6 (DNA mismatch repair protein Msh6)
A1162D (p.Ala1162Asp) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inherited MMR deficiency (Lynch syndrome); Hereditary nonpolyposis colon cancer. The record also includes published literature and structural context.
A1162D (p.Ala1162Asp) variant details
- p.Ala1162Asp
- rs587779935
- ClinGen CA013090
- ClinVar RCV000115416
- ClinVar RCV000212684
- Pathogenic/Likely pathogenic
- Inherited MMR deficiency (Lynch syndrome); Hereditary nonpolyposis colon cancer
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Inherited MMR deficiency (Lynch syndrome); Hereditary nonpolypos)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)