C53G (p.Cys53Gly) variant of RAD50 (DNA repair protein RAD50)
C53G (p.Cys53Gly) in RAD50 (DNA repair protein RAD50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
C53G (p.Cys53Gly) variant details
- p.Cys53Gly
- rs2479579644
- ClinGen CA360953368
- ClinVar RCV002405787
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)