L36V (p.Leu36Val) variant of RAD51D (O75771)
L36V (p.Leu36Val) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep. The record also includes published literature and structural context.
L36V (p.Leu36Val) variant details
- p.Leu36Val
- rs1597877703
- ClinGen CA399091934
- ClinVar RCV001017192
- ClinVar RCV001860857
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Breast-ovarian cancer,)
- EBI: Likely benign
- UniProt: Likely benign
- 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)