G3W (p.Gly3Trp) variant of RAD51C (O43502)
G3W (p.Gly3Trp) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
G3W (p.Gly3Trp) variant details
- p.Gly3Trp
- rs376403182
- ClinGen CA400336094
- ClinVar RCV001053193
- ClinVar RCV004031674
- Conflicting interpretations
- Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.07
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Fanconi anemia complementation group O; Hereditary cancer-predis)
- EBI: Benign (in dbSNP:rs376403182)
- UniProt: Benign (in dbSNP:rs376403182)
- Most common in the African/African-American population (allele frequency 3e-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)