R2C (p.Arg2Cys) variant of RAD51C (O43502)
R2C (p.Arg2Cys) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
R2C (p.Arg2Cys) variant details
- p.Arg2Cys
- rs758029117
- ClinGen CA8677116
- ClinVar RCV002259186
- ExAC rs758029117
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0433
- REVEL 0.04
- CADD 0.79
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)