K26M (p.Lys26Met) variant of RAD51C (O43502)
K26M (p.Lys26Met) 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; not specified; Fanconi anemia complemen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K26M (p.Lys26Met) variant details
- p.Lys26Met
- rs746026526
- ClinGen CA8677141
- cosmic curated COSV10587
- ClinVar RCV000409148
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; Fanconi anemia complemen
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.30
- CADD 28.30
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; Fanconi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 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)