SMARCB1 Chromosome 22
SWI/SNF related BAF chromatin remodeling complex subunit B1
Upload your DNA to see your personal genotypes for variants in SMARCB1.
What This Gene Does
The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|BAF complex subunits|PBAF complex subunits"
Locus Type
gene with protein product
Location
22q11.23
Ensembl
ENSG00000099956
Associated Conditions (27)
Hereditary cancer-predisposing syndrome
SMARCB1-related disorder
Coffin-Siris syndrome
SMARCB1-related schwannomatosis
Rhabdoid tumor predisposition syndrome 1
Intellectual disability
autosomal dominant 15
SMARCB1-related BAFopathy
Autism spectrum disorder
Neoplasm
Rhabdoid tumor predisposition syndrome 2
Ovarian cancer
NK-cell enteropathy
Atypical teratoid rhabdoid tumor
Schwannomatosis 1
somatic
Teratoid tumor
atypical
Schwannomatosis
Developmental disorder
+7 more conditions
Key Variants
RS1029942798
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, SMARCB1-related disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1049144154
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060503018
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1295969050
Conflicting classifications of pathogenicity
Coffin-Siris syndrome, Hereditary cancer-predisposing syndrome, Coffin-Siris syndrome
Health Risk
RS1362758319
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS138184483
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, SMARCB1-related disorder, SMARCB1-related schwannomatosis
Health Risk
RS1387467529
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS145695677
Conflicting classifications of pathogenicity
SMARCB1-related schwannomatosis, Rhabdoid tumor predisposition syndrome 1, Hereditary cancer-predisposing syndrome
Health Risk
RS1555875308
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS1555881563
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 15, Hereditary cancer-predisposing syndrome
Health Risk
RS1568963037
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 15, SMARCB1-related BAFopathy
Health Risk
RS1568963596
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 15, Intellectual disability
Health Risk
All Variants (128)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2145978723 | Health Risk | Pathogenic | Rhabdoid tumor predisposition syndrome 1, Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 1 |
| RS2145980559 | Health Risk | Pathogenic | Schwannomatosis, Schwannomatosis |
| RS2145980562 | Health Risk | Pathogenic | Schwannomatosis, Schwannomatosis |
| RS2146010204 | Health Risk | Pathogenic | SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis |
| RS2146010499 | Health Risk | Pathogenic | — |
| RS2146042856 | Health Risk | Pathogenic | SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis |
| RS2146045204 | Health Risk | Pathogenic | Rhabdoid tumor predisposition syndrome 1, Atypical teratoid rhabdoid tumor, Rhabdoid tumor predisposition syndrome 1 |
| RS2517660427 | Health Risk | Pathogenic | — |
| RS2517660810 | Health Risk | Pathogenic | Developmental disorder, Hereditary cancer-predisposing syndrome, Developmental disorder |
| RS2517664783 | Health Risk | Pathogenic | SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis |
| RS2517679712 | Health Risk | Pathogenic | — |
| RS2517679862 | Health Risk | Pathogenic | — |
| RS2517684135 | Health Risk | Pathogenic | — |
| RS2517684307 | Health Risk | Pathogenic | Rhabdoid tumor predisposition syndrome 1, Rhabdoid tumor predisposition syndrome 1 |
| RS267607072 | Health Risk | Pathogenic | SMARCB1-related schwannomatosis, Hereditary cancer-predisposing syndrome, SMARCB1-related schwannomatosis |
| RS587776677 | Health Risk | Pathogenic | Malignant rhabdoid tumor, somatic, Malignant rhabdoid tumor |
| RS587776678 | Health Risk | Pathogenic | Rhabdoid tumor predisposition syndrome 1, Rhabdoid tumor predisposition syndrome 1 |
| RS587776679 | Health Risk | Pathogenic | SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis |
| RS74315513 | Health Risk | Pathogenic | SMARCB1-related schwannomatosis, Hereditary cancer-predisposing syndrome, SMARCB1-related schwannomatosis |
| RS875989800 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 15, Hereditary cancer-predisposing syndrome |
| RS1057517825 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 15, SMARCB1-related BAFopathy |
| RS1555881567 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 15, Hereditary cancer-predisposing syndrome |
| RS2145952184 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2517652605 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS398122368 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 15, SMARCB1-related BAFopathy |
| RS779769475 | Health Risk | Pathogenic/Likely pathogenic | SMARCB1-related schwannomatosis, Hereditary cancer-predisposing syndrome, SMARCB1-related disorder |
| RS797045989 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 15, Intellectual disability |
| RS878854600 | Health Risk | Pathogenic/Likely pathogenic | SMARCB1-related schwannomatosis, Schwannoma, Peripheral schwannoma |