N38S (p.Asn38Ser) variant of SMARCE1 (Q969G3)
N38S (p.Asn38Ser) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial meningioma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N38S (p.Asn38Ser) variant details
- p.Asn38Ser
- rs915901827
- ClinGen CA290557478
- ClinVar RCV001009988
- ClinVar RCV003638732
- Conflicting interpretations
- Familial meningioma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Familial meningioma; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.578
- 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)