A30V (p.Ala30Val) variant of RAD51C (O43502)
A30V (p.Ala30Val) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial ovarian cancer; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- rs1000113630
- ClinGen CA292047058
- ClinVar RCV000574008
- ClinVar RCV000705597
- Conflicting interpretations
- Familial ovarian cancer; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.20
- AlphaMissense 0.44
- MetaLR 0.24
- MetaSVM -0.65
- CADD 28.70
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Familial ovarian cancer; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)