G56S (p.Gly56Ser) variant of SMARCE1 (Q969G3)
G56S (p.Gly56Ser) 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 experimental measurements, published literature, and structural context.
G56S (p.Gly56Ser) variant details
- p.Gly56Ser
- rs2508606789
- ClinGen CA399368012
- ClinVar RCV003527524
- ClinVar RCV004369371
- 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
- SMARCE1 High mobility group box domain domainome 1.0: score -0.802
- 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)