R7S (p.Arg7Ser) variant of RAD51C (O43502)
R7S (p.Arg7Ser) 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 provided; Fanconi anemia complement. 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.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- rs759759863
- ClinGen CA400336232
- ClinVar RCV000648251
- ClinVar RCV001013997
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia complement
- Missense
- Variant Prioritization Score for Impact Estimate 0.0277
- REVEL 0.01
- CADD 0.46
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Fanconi a)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-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)