CHRNA7 p.Pro322=
c.966C>T · rs765301048 · VCV711613
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0255%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -15 | GERP -3.7 |
| Overall | ||
| CADD | 1.156 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0255%
African / African-American · 9/35,334 alleles
Filtering AF
0.0132%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00992%
Overall
0.0023%
18/781,948 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0255% | 3,926 |
| Admixed American | 0.00993% | 10,074 |
| Remaining individualsnot grpmax-eligible | 0.00992% | 10,085 |
| European (non-Finnish) | 0.00036% | 277,826 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CHRNA7
- Protein
- p.Pro322=
- Coding
- c.966C>T
- MANE Select
- NM_000746
- dbSNP
- rs765301048
- Type
- single nucleotide variant
- Location
- chr15:32163311 (GRCh38)
- Gene constraint
- LOEUF 1.064 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 79.16 · 51 PDB
- Residue 322
- a β-strand
Similar variants
- CHRNA7 p.Asn381Asp Uncertain significance ★★ ⚠ same type
- CHRNA7 p.Val374Met Uncertain significance ★★ ⚠ same type
- CHRNA7 c.196-4G>T Likely benign ★★ same type
- CHRNA7 c.240+113C>A Benign ★★ same type
- CHRNA7 c.350+304G>A Likely benign ★★ same type
- CHRNA7 c.55+77G>A Benign ★★ same type
- CHRNA7 c.598+86C>T Benign ★★ same type
- CHRNA7 c.599-111T>A Benign ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/chrna7-p-pro322 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown