C9Y (p.Cys9Tyr) variant of RAD51D (O75771)
C9Y (p.Cys9Tyr) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp. The record also includes published literature and structural context.
C9Y (p.Cys9Tyr) variant details
- p.Cys9Tyr
- rs140825795
- ClinGen CA399092518
- ClinVar RCV001219272
- ClinVar RCV002436844
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- Missense
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 4; Hereditar)
- EBI: Likely benign (in dbSNP:rs140825795)
- UniProt: Likely benign (in dbSNP:rs140825795)
- 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)