G15A (p.Gly15Ala) variant of SMARCA4 (P51532)
G15A (p.Gly15Ala) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-predisposing syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G15A (p.Gly15Ala) variant details
- p.Gly15Ala
- rs1060502077
- ClinGen CA404053967
- ClinVar RCV001022593
- ClinVar RCV003617883
- Conflicting interpretations
- Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.38
- AlphaMissense 0.85
- MetaLR 0.61
- MetaSVM 0.27
- CADD 23.00
- PolyPhen-2 0.98
- ClinVar: Conflicting classifications of pathogenicity (Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-pred)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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: Rhabdoid Tumor Predisposition Syndrome. (PMID 29215836)