SMARCC2 Chromosome 12
SWI/SNF related BAF chromatin remodeling complex subunit C2
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What This Gene Does
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Myb/SANT domain containing|BAF complex subunits|PBAF complex subunits"
Locus Type
gene with protein product
Location
12q13.2
Ensembl
ENSG00000139613
Associated Conditions (7)
Intellectual disability
Coffin-Siris syndrome 8
SMARCC2-related disorder
See cases
SMARCC2-related BAFopathy
Neurodevelopmental disorder
Neurodevelopmental delay
Key Variants
RS1877432240
Conflicting classifications of pathogenicity
Intellectual disability, Coffin-Siris syndrome 8, Intellectual disability
Health Risk
RS201954161
Conflicting classifications of pathogenicity
SMARCC2-related disorder, Coffin-Siris syndrome 8, SMARCC2-related disorder
Health Risk
RS2540917266
Conflicting classifications of pathogenicity
Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
Health Risk
RS2540960357
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS752001894
Conflicting classifications of pathogenicity
Coffin-Siris syndrome 8, SMARCC2-related disorder, Coffin-Siris syndrome 8
Health Risk
RS965519704
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1488489883
Likely pathogenic
SMARCC2-related BAFopathy, SMARCC2-related BAFopathy
Health Risk
RS1592324196
Likely pathogenic
Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
Health Risk
RS1872575522
Likely pathogenic
Health Risk
RS1873193008
Likely pathogenic
Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
Health Risk
RS1874016146
Likely pathogenic
Health Risk
RS1875450525
Likely pathogenic
Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1877432240 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Coffin-Siris syndrome 8, Intellectual disability |
| RS201954161 | Health Risk | Conflicting classifications of pathogenicity | SMARCC2-related disorder, Coffin-Siris syndrome 8, SMARCC2-related disorder |
| RS2540917266 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS2540960357 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS752001894 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Siris syndrome 8, SMARCC2-related disorder, Coffin-Siris syndrome 8 |
| RS965519704 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS1488489883 | Health Risk | Likely pathogenic | SMARCC2-related BAFopathy, SMARCC2-related BAFopathy |
| RS1592324196 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS1872575522 | Health Risk | Likely pathogenic | — |
| RS1873193008 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS1874016146 | Health Risk | Likely pathogenic | — |
| RS1875450525 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS1877425899 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2135733729 | Health Risk | Likely pathogenic | SMARCC2-related BAFopathy, SMARCC2-related BAFopathy |
| RS2540896084 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS2540900727 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS2540901234 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS1206884190 | Health Risk | Pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS1555221275 | Health Risk | Pathogenic | SMARCC2-related disorder, SMARCC2-related BAFopathy, Coffin-Siris syndrome 8 |
| RS1565896447 | Health Risk | Pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS1565903367 | Health Risk | Pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS1565917836 | Health Risk | Pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS2135687866 | Health Risk | Pathogenic | SMARCC2-related BAFopathy, SMARCC2-related BAFopathy |
| RS2135733425 | Health Risk | Pathogenic | — |
| RS2540837488 | Health Risk | Pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS2540882993 | Health Risk | Pathogenic | — |
| RS2540900784 | Health Risk | Pathogenic | — |
| RS2540924412 | Health Risk | Pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS2540924441 | Health Risk | Pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS2540935832 | Health Risk | Pathogenic | — |
| RS2540972828 | Health Risk | Pathogenic | — |
| RS1565903353 | Health Risk | Pathogenic/Likely pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS1876739249 | Health Risk | Pathogenic/Likely pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS2135734683 | Health Risk | Pathogenic/Likely pathogenic | Coffin-Siris syndrome 8, Coffin-Siris syndrome 8 |
| RS2135750656 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |