V28L (p.Val28Leu) variant of RAD51D (O75771)
V28L (p.Val28Leu) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep. The record also includes published literature and structural context.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- rs2142480064
- ClinGen CA399092236
- ClinVar RCV002430340
- ClinVar RCV003454215
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Breast-ovarian cancer,)
- 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)