G58S (p.Gly58Ser) variant of MRE11 (P49959)
G58S (p.Gly58Ser) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
G58S (p.Gly58Ser) variant details
- p.Gly58Ser
- rs2496621558
- ClinGen CA382379903
- ClinVar RCV002460725
- ClinVar RCV003757238
- Uncertain significance
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- 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)