G125S (p.Gly125Ser) variant of RAD51C (O43502)
G125S (p.Gly125Ser) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G125S (p.Gly125Ser) variant details
- p.Gly125Ser
- rs142058115
- ClinGen CA8677201
- ClinVar RCV000457364
- ClinVar RCV001021013
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Breast-ov)
- EBI: Variant of uncertain significance (in BROVCA3)
- UniProt: Uncertain significance (in BROVCA3)
- 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)