CHRNA7
Chr 15cholinergic receptor nicotinic alpha 7 subunit
Also known as: CHRNA7-2, NACHRA7, a7nAChR, nAChR7
The protein forms homopentameric nicotinic acetylcholine receptors that function as ligand-gated calcium-permeable ion channels mediating synaptic transmission in the central nervous system, and also plays roles in cholinergic anti-inflammatory signaling in immune cells. Mutations cause autosomal dominant nocturnal frontal lobe epilepsy and are associated with benign familial neonatal-infantile seizures, typically presenting in infancy or childhood. This gene is not highly constrained against loss-of-function variants and has a GeneReviews entry available for detailed clinical guidance.
Refuted — evidence has disproved this relationship
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
98 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 | 58 | 0 | 58 |
Likely Pathogenic | 0 | 0 | 7 | 0 | 7 |
VUS | 1 | 0 | 14 | 0 | 15 |
Likely Benign | 0 | 1 | 4 | 9 | 14 |
Benign | 0 | 1 | 2 | 1 | 4 |
| Total | 1 | 2 | 85 | 10 | 98 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CHRNA7 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools