SMARCA4-related BAFopathy: genes and variants
SMARCA4-related BAFopathy is linked to 1 analyzed protein (SMARCA4). 5 DNA variants are known to cause it; 1 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to SMARCA4-related BAFopathy
SMARCA4: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4
Its ATPase activity drives nucleosome remodeling in BAF-family complexes and thereby controls access to regulatory DNA. Germline pathogenic variants cause Coffin-Siris syndrome or rhabdoid-tumor predisposition, while somatic loss defines several aggressive cancers.
5 disease-causing and 1 uncertain variants in SMARCA4 are linked to SMARCA4-related BAFopathy.
Where SMARCA4-related BAFopathy variants cluster
- SMARCA4 RNA-binding region which is sufficient for bindi (positions 462–728): 3 of 5 disease-causing changes, 3.7× more than its size predicts.
Known disease-causing variants in SMARCA4-related BAFopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SMARCA4 P913L | 913 | Helicase ATP-binding | Disease-causing (★★) |
| SMARCA4 R549L | 549 | RNA-binding region which is sufficient for bindi | Disease-causing (★★) |
| SMARCA4 L553R | 553 | RNA-binding region which is sufficient for bindi | Disease-causing (★) |
| SMARCA4 V568L | 568 | RNA-binding region which is sufficient for bindi | Disease-causing (★) |
| SMARCA4 L1092R | 1092 | Helicase C-terminal | Disease-causing (★) |
Same protein, different disease
- Rhabdoid tumor predisposition syndrome 2 is also caused by SMARCA4 variants; they fall mostly in different places as the SMARCA4-related BAFopathy variants (10 disease-causing).
Diseases related to SMARCA4-related BAFopathy
- Non-small cell lung carcinoma, also linked to SMARCA4
- Coffin-Siris syndrome, also linked to SMARCA4
- Rhabdoid tumor predisposition syndrome 2, also linked to SMARCA4
- Lung adenocarcinoma, also linked to SMARCA4
- Medulloblastoma, also linked to SMARCA4
Frequently asked questions
Which genes are linked to SMARCA4-related BAFopathy?
In CATVariant, SMARCA4-related BAFopathy is linked to 1 analyzed protein: SMARCA4 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4).
How many genetic variants are linked to SMARCA4-related BAFopathy?
6 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in SMARCA4-related BAFopathy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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