A46D (p.Ala46Asp) variant of MUTYH (Adenine DNA glycosylase)
A46D (p.Ala46Asp) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2. The record also includes published literature and structural context.
A46D (p.Ala46Asp) variant details
- p.Ala46Asp
- rs2524353140
- ClinGen CA340136992
- ClinVar RCV004523657
- ClinVar RCV004805651
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: MUTYH Polyposis. (PMID 23035301)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)