CHRNB4 p.Ser323=
c.969G>A · rs145795316 · VCV718588
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.741%, 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 -12 | GERP -3.9 |
| Overall | ||
| CADD | 0.86 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.741%
African / African-American · 556/74,992 alleles
Filtering AF
0.69%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.67%
Overall
0.0479%
773/1,613,978 alleles · rare
exomes 456/1,461,812 · genomes 317/152,166 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.741% | 135 |
| South Asian | 0.104% | 959 |
| Remaining individualsnot grpmax-eligible | 0.0672% | 1,488 |
| Admixed American | 0.0433% | 2,307 |
| Finnishnot grpmax-eligible | 0.0234% | 4,265 |
| Middle Eastern | 0.0165% | 6,060 |
| European (non-Finnish) | 0.00322% | 31,053 |
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
- CHRNB4
- Protein
- p.Ser323=
- Coding
- c.969G>A
- MANE Select
- NM_000750
- dbSNP
- rs145795316
- Type
- single nucleotide variant
- Location
- chr15:78629336 (GRCh38)
- Gene constraint
- LOEUF 0.772 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.08 · 4 PDB
Similar variants
- CHRNB4 c.*76T>C Benign ★★ same type
- CHRNB4 p.Asn41Ser Benign ★★ same type
- CHRNB4 p.Ile240= Benign ★★ same type
- CHRNB4 p.Thr375Ile Benign ★★ same type
- CHRNB4 p.Ala14Asp Uncertain significance ★ ⚠ same type
- CHRNB4 p.Ala14Val Uncertain significance ★ ⚠ same type
- CHRNB4 p.Ala393Thr Uncertain significance ★ ⚠ same type
- CHRNB4 p.Ala395Thr Uncertain significance ★ ⚠ 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/chrnb4-p-ser323 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown