D24N (p.Asp24Asn) variant of TSC1 (Hamartin)
D24N (p.Asp24Asn) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Lymphangiomyomatosis; Isolated focal co. 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.
D24N (p.Asp24Asn) variant details
- p.Asp24Asn
- rs984306144
- ClinGen CA200902498
- cosmic curated COSV53768
- ClinVar RCV000815042
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Lymphangiomyomatosis; Isolated focal co
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.39
- CADD 20.80
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Lymphangiomyomatosis; I)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-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)