R7G (p.Arg7Gly) variant of RAD51C (O43502)
R7G (p.Arg7Gly) 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; not specified; Fanconi anemia complemen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data, published literature, and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- rs759759863
- ClinGen CA8677124
- ClinVar RCV000701405
- ClinVar RCV002422570
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; Fanconi anemia complemen
- Missense
- Variant Prioritization Score for Impact Estimate 0.0287
- REVEL 0.01
- CADD 0.38
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; Fanconi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)