C135R (p.Cys135Arg) variant of RAD51C (O43502)
C135R (p.Cys135Arg) 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; Ovarian cancer; Fanconi anemia compleme. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
C135R (p.Cys135Arg) variant details
- p.Cys135Arg
- rs878855178
- ClinGen CA10583603
- ClinVar RCV000231632
- ClinVar RCV000582369
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Ovarian cancer; Fanconi anemia compleme
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.76
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Ovarian cancer; Fanconi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-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)