K17E (p.Lys17Glu) variant of MUTYH (Adenine DNA glycosylase)
K17E (p.Lys17Glu) 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.
K17E (p.Lys17Glu) variant details
- p.Lys17Glu
- rs2524366542
- ClinGen CA340137285
- ClinVar RCV002343008
- ClinVar RCV006470795
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Likely benign
- UniProt: Likely 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)