G11C (p.Gly11Cys) variant of RAD51D (O75771)
G11C (p.Gly11Cys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G11C (p.Gly11Cys) variant details
- p.Gly11Cys
- rs776471760
- ClinGen CA399092508
- ClinVar RCV000561204
- ClinVar RCV001320501
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.35
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 4; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)