G125V (p.Gly125Val) variant of RAD51C (O43502)
G125V (p.Gly125Val) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary breast ovarian cancer syndrome; Fanconi anemia complementation group. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
G125V (p.Gly125Val) variant details
- p.Gly125Val
- rs267606998
- ClinGen CA118526
- ClinVar RCV000007226
- ClinVar RCV001195016
- Likely pathogenic
- Hereditary breast ovarian cancer syndrome; Fanconi anemia complementation group
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.93
- MetaLR 0.64
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (Hereditary breast ovarian cancer syndrome; Fanconi anemia comple)
- EBI: Pathogenic (in BROVCA3)
- UniProt: Pathogenic (in BROVCA3)
- 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: Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. (PMID 21990120)