F17C (p.Phe17Cys) variant of RAD51C (O43502)
F17C (p.Phe17Cys) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
F17C (p.Phe17Cys) variant details
- p.Phe17Cys
- rs1411454855
- ClinGen CA400336669
- ClinVar RCV001023547
- ClinVar RCV001301354
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.07
- AlphaMissense 0.38
- MetaLR 0.14
- MetaSVM -0.99
- CADD 28.10
- PolyPhen-2 0.95
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)