R12W (p.Arg12Trp) variant of RAD51C (O43502)
R12W (p.Arg12Trp) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Fanconi anemia complementation group O; Breast-ovarian cancer, familial, suscept. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R12W (p.Arg12Trp) variant details
- p.Arg12Trp
- rs28910276
- ClinGen CA8677126
- ClinVar RCV000464422
- ClinVar RCV000485483
- Conflicting interpretations
- Fanconi anemia complementation group O; Breast-ovarian cancer, familial, suscept
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.37
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Fanconi anemia complementation group O; Breast-ovarian cancer, f)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)