L36M (p.Leu36Met) variant of RAD51D (O75771)
L36M (p.Leu36Met) 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; not provided; Hereditary. The record also includes published literature and structural context.
L36M (p.Leu36Met) variant details
- p.Leu36Met
- rs1597877703
- ClinGen CA399091936
- ClinVar RCV000814230
- ClinVar RCV003127473
- Conflicting interpretations
- Breast-ovarian cancer, familial, susceptibility to, 4; not provided; Hereditary
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Breast-ovarian cancer, familial, susceptibility to, 4; not provi)
- 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)