S21G (p.Ser21Gly) variant of SMARCE1 (Q969G3)
S21G (p.Ser21Gly) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial meningioma; Hereditary cancer-predisposing syndrome. The record also includes experimental measurements, published literature, and structural context.
S21G (p.Ser21Gly) variant details
- p.Ser21Gly
- rs2508613634
- ClinGen CA399370012
- ClinVar RCV002996802
- ClinVar RCV006292285
- Uncertain significance
- Familial meningioma; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Familial meningioma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.328
- 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)