CHRNB2 p.His161=
c.483C>T · rs190967991 · VCV543545
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.294%, eas)
Conditions
2
Inborn genetic diseases
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 2.7 | GERP 2, phastCons 1 |
| Overall | ||
| CADD | 15.15 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.294%
East Asian · 132/44,882 alleles
Filtering AF
0.253%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.238%
Overall
0.0102%
164/1,614,226 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.294% | 340 |
| Remaining individualsnot grpmax-eligible | 0.0192% | 5,209 |
| Finnishnot grpmax-eligible | 0.00312% | 32,021 |
| European (non-Finnish) | 0.00153% | 65,558 |
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
- CHRNB2
- Protein
- p.His161=
- Coding
- c.483C>T
- MANE Select
- NM_000748
- dbSNP
- rs190967991
- Type
- single nucleotide variant
- Location
- chr1:154571306 (GRCh38)
- Gene constraint
- LOEUF 1.116 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.16 · 15 PDB
- Residue 161
- a disulfide bond; a turn
Similar variants
- CHRNB2 p.His161Tyr Uncertain significance ★ ⚠ same residue
- CHRNB2 p.Val287Leu Pathogenic/Likely pathogenic ★★ ⚠ same condition
- CHRNB2 p.Val287Met Pathogenic ★★ ⚠ same condition
- CHRNB2 p.Val308Ala Pathogenic/Likely pathogenic ★★ same condition
- CHRNB2 c.1338+3G>T Uncertain significance ★★ same condition
- CHRNB2 c.366-3C>T Uncertain significance ★★ same condition
- CHRNB2 p.Ala135Val Uncertain significance ★★ ⚠ same condition
- CHRNB2 p.Ala154Thr Uncertain significance ★★ same condition
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/chrnb2-p-his161 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown