V6I (p.Val6Ile) variant of RAD51D (O75771)
V6I (p.Val6Ile) 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.
V6I (p.Val6Ile) variant details
- p.Val6Ile
- rs368198698
- ClinGen CA193835
- ClinVar RCV000165618
- ClinVar RCV001228012
- 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 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)