L138F (p.Leu138Phe) variant of RAD51C (O43502)
L138F (p.Leu138Phe) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial ovarian cancer; RAD51C-related cancer predisposition; Breast-ovarian ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L138F (p.Leu138Phe) variant details
- p.Leu138Phe
- rs267606999
- ClinGen CA118528
- ClinVar RCV000007227
- ClinVar RCV000129800
- Pathogenic/Likely pathogenic
- Familial ovarian cancer; RAD51C-related cancer predisposition; Breast-ovarian ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.59
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Familial ovarian cancer; RAD51C-related cancer predisposition; B)
- EBI: Pathogenic (in BROVCA3)
- UniProt: Pathogenic (in BROVCA3)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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: Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2… (PMID 24141787)