G3R (p.Gly3Arg) variant of RAD51C (O43502)
G3R (p.Gly3Arg) 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; Fanconi anemia complementation group O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- rs376403182
- ClinGen CA400336093
- ClinVar RCV001188570
- ClinVar RCV003617911
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.0876
- REVEL 0.05
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Likely benign (in dbSNP:rs376403182)
- UniProt: Likely benign (in dbSNP:rs376403182)
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. (PMID 20400964)
- Cited in: Fanconi Anemia. (PMID 20301575)