A30S (p.Ala30Ser) variant of RAD51C (O43502)
A30S (p.Ala30Ser) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Fanconi anemia complementation group O; Breast-ovarian cancer, familial, suscept. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- rs1331134740
- ClinGen CA400337138
- ClinVar RCV000581168
- ClinVar RCV000692461
- Conflicting interpretations
- Fanconi anemia complementation group O; Breast-ovarian cancer, familial, suscept
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.15
- AlphaMissense 0.92
- MetaLR 0.29
- MetaSVM -0.50
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Fanconi anemia complementation group O; Breast-ovarian cancer, f)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-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)