R2G (p.Arg2Gly) variant of RAD51C (O43502)
R2G (p.Arg2Gly) 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 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
R2G (p.Arg2Gly) variant details
- p.Arg2Gly
- rs758029117
- ClinGen CA400336071
- ClinVar RCV000663126
- ClinVar RCV000772906
- Conflicting interpretations
- Breast-ovarian cancer, familial, susceptibility to, 3; Hereditary cancer-predisp
- Missense
- Variant Prioritization Score for Impact Estimate 0.0493
- REVEL 0.05
- CADD 0.61
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Breast-ovarian cancer, familial, susceptibility to, 3; 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: 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)