R12G (p.Arg12Gly) variant of RAD51C (O43502)
R12G (p.Arg12Gly) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R12G (p.Arg12Gly) variant details
- p.Arg12Gly
- rs28910276
- ClinGen CA400336434
- ClinVar RCV000804140
- ClinVar RCV002453783
- Conflicting interpretations
- Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.29
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Fanconi anemia complementation group O; Hereditary cancer-predis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)