L116V (p.Leu116Val) variant of SMARCE1 (Q969G3)
L116V (p.Leu116Val) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial meningioma. The record also includes published literature and structural context.
L116V (p.Leu116Val) variant details
- p.Leu116Val
- rs2508604537
- NCI-TCGA Cosmic COSV5286
- cosmic curated COSV52860
- ClinGen CA399367024
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)