CHRNB2 p.Gln85=
c.255G>A · rs2149366262 · VCV1675375
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.46 | donor gain · deltas |
|---|---|---|
| Pangolin | Δ0.58 | gain · loss 0.32 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 9.8 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 25.5 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CHRNB2
- Protein
- p.Gln85=
- Coding
- c.255G>A
- MANE Select
- NM_000748
- dbSNP
- rs2149366262
- Type
- single nucleotide variant
- Location
- chr1:154569836 (GRCh38)
- Gene constraint
- LOEUF 1.116 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.16 · 15 PDB
- Residue 85
- a β-strand
Similar variants
- CHRNB2 p.Val287Leu Pathogenic/Likely pathogenic ★★ ⚠ same type
- CHRNB2 p.Val287Met Pathogenic ★★ ⚠ same type
- CHRNB2 p.Val308Ala Pathogenic/Likely pathogenic ★★ same type
- CHRNB2 c.1338+3G>T Uncertain significance ★★ same type
- CHRNB2 c.366-3C>T Uncertain significance ★★ same type
- CHRNB2 p.Ala135Val Uncertain significance ★★ ⚠ same type
- CHRNB2 p.Ala154Thr Uncertain significance ★★ same type
- CHRNB2 p.Ala207Gly 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/chrnb2-p-gln85 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown