G8R (p.Gly8Arg) variant of TSC1 (Hamartin)
G8R (p.Gly8Arg) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome; Lymphangiomyomato. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- rs773784532
- ClinGen CA032066
- cosmic curated COSV53763
- ClinVar RCV001015114
- Conflicting interpretations
- Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome; Lymphangiomyomato
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.47
- CADD 24.50
- PolyPhen-2 0.66
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome; L)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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: Tuberous Sclerosis Complex. (PMID 20301399)