M10I (p.Met10Ile) variant of RAD51C (O43502)
M10I (p.Met10Ile) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M10I (p.Met10Ile) variant details
- p.Met10Ile
- rs775871420
- ExAC rs775871420
- gnomAD rs775871420
- ClinGen CA8677125
- Uncertain significance
- Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.24
- CADD 28.90
- PolyPhen-2 0.78
- SIFT 0.02
- ClinVar: Uncertain significance (Fanconi anemia complementation group O; Hereditary cancer-predis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)