CHRFAM7A
Chr 15CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion
Also known as: CHRNA7, CHRNA7-DR1, D-10
The protein product of this hybrid gene would form a truncated nicotinic acetylcholine receptor subunit that lacks most of the neurotransmitter binding domain but retains the transmembrane ion channel region, though translation of functional protein has not been confirmed. This gene is extremely tolerant to loss-of-function mutations based on population genetics data (very low pLI score), and no established Mendelian diseases have been linked to CHRFAM7A mutations. The gene represents a partial duplication of CHRNA7 located in a chromosomal region associated with neuropsychiatric disorders.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function 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
171 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 | 92 | 0 | 92 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 41 | 24 | 0 | 65 |
Likely Benign | 0 | 2 | 1 | 2 | 5 |
Benign | 0 | 0 | 1 | 0 | 1 |
Conflicting | — | 2 | |||
| Total | 0 | 43 | 121 | 2 | 168 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CHRFAM7A · 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