ACTL6A
Chr 3actin like 6A
Also known as: ACTL6, ARPN-BETA, Arp4, BAF53A, INO80K, SMARCN1
This gene encodes ACTL6A, a 53 kDa subunit of the BAF chromatin remodeling complex that is essential for transcriptional regulation during neural development, specifically required for neural progenitor proliferation and the transition to postmitotic neurons. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, developmental delay, and epilepsy, typically presenting in early childhood. The gene is highly constrained against loss-of-function variants (pLI 0.997), indicating intolerance to protein-disrupting mutations.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
114 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 24 | 0 | 24 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 4 | 43 | 4 | 0 | 51 |
Likely Benign | 0 | 3 | 1 | 5 | 9 |
Benign | 0 | 1 | 0 | 1 | 2 |
Conflicting | — | 2 | |||
| Total | 4 | 47 | 33 | 6 | 92 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ACTL6A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools