M1K (p.Met1Lys) variant of RAD51D (O75771)
M1K (p.Met1Lys) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1064794619
- ClinGen CA399092629
- ClinVar RCV000522287
- ClinVar RCV001805135
- Conflicting interpretations
- Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Breast-ovarian cancer, familial, susceptibility to, 4; Hereditar)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)