CHRNB2 p.Leu185=
c.553T>C · VCV3353230
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
CHRNB2-related disorder
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 -0.5 | GERP -3.3, phastCons 0.028 |
| Overall | ||
| CADD | 5.368 | 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.Leu185=
- Coding
- c.553T>C
- MANE Select
- NM_000748
- Type
- single nucleotide variant
- Location
- chr1:154571376 (GRCh38)
- Gene constraint
- LOEUF 1.116 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.16 · 15 PDB
- Residue 185
- a β-strand
Disease context
CHRNB2-related disorder
Similar variants
- CHRNB2 p.Leu185Ser Uncertain significance ★ ⚠ same residue
- CHRNB2 p.Arg180Leu Uncertain significance ⚠ same condition
- CHRNB2 p.Val469fs Uncertain significance ★ same condition
- 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
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-leu185 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown