D13Y (p.Asp13Tyr) variant of RAD51C (O43502)
D13Y (p.Asp13Tyr) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D13Y (p.Asp13Tyr) variant details
- p.Asp13Tyr
- rs1060502603
- ClinGen CA400336506
- ClinVar RCV003319577
- ClinVar RCV005714953
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.13
- AlphaMissense 0.15
- MetaLR 0.15
- MetaSVM -0.87
- CADD 25.30
- PolyPhen-2 0.41
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Breast-ovarian cancer,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)