R28G (p.Arg28Gly) variant of ALK (ALK tyrosine kinase receptor)
R28G (p.Arg28Gly) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3. The record also includes variant effect predictions, published literature, and structural context.
R28G (p.Arg28Gly) variant details
- p.Arg28Gly
- rs1060500231
- ClinGen CA346590726
- ClinVar RCV001231016
- ClinVar RCV005348373
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- Missense
- MutPred 0.22
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Neuroblastoma, suscepti)
- EBI: Likely benign
- UniProt: Likely benign
- 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)
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)