R12P (p.Arg12Pro) variant of RAD51C (O43502)
R12P (p.Arg12Pro) in RAD51C (O43502) 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, 3; Hereditary cancer-predisp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R12P (p.Arg12Pro) variant details
- p.Arg12Pro
- rs764394130
- ClinGen CA8677127
- ClinVar RCV001020689
- ClinVar RCV001230013
- Conflicting interpretations
- Breast-ovarian cancer, familial, susceptibility to, 3; Hereditary cancer-predisp
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.22
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Breast-ovarian cancer, familial, susceptibility to, 3; Hereditar)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 3.5e-05)
- 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)