I17M (p.Ile17Met) variant of TSC2 (Tuberin)
I17M (p.Ile17Met) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
I17M (p.Ile17Met) variant details
- p.Ile17Met
- rs2150971085
- ClinGen CA394301052
- ClinVar RCV004520870
- ClinVar RCV006564925
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.0852
- REVEL 0.02
- CADD 14.50
- PolyPhen-2 0.09
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)