SMARCC2
Chr 12ADSWI/SNF related BAF chromatin remodeling complex subunit C2
Also known as: BAF170, CRACC2, CSS8, Rsc8
The protein is a core component of the SWI/SNF chromatin remodeling complex that uses ATP-dependent helicase activity to alter chromatin structure and regulate gene transcription. Loss-of-function mutations cause Coffin-Siris syndrome 8, an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, distinctive facial features, and hypoplastic fifth fingernails and toenails. The gene is highly intolerant to loss-of-function variants, indicating haploinsufficiency as the disease mechanism.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SMARCC2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Efficacy and Safety of the Valemetostat in Patients With Selected Solid Tumors.
RECRUITINGOnline Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGExternal Resources
Links to major genomics databases and tools