Sugi Variant

Sugi Variant/CHRNA3

CHRNA3 — 196 ClinVar variants

All ClinVar germline CHRNA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →

5 Pathogenic · 10 Likely pathogenic · 2 Conflicting · 19 Benign · 2 Benign/Likely benign · 44 Likely benign · 114 Uncertain significance

Full CHRNA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 101

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 70

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 31

The independent predictors disagree with each other — read with care.

All CHRNA3 variants

Pathogenic 5

  • p.Cys173fs Single submitter urinary bladder, atony of
  • p.Lys368fs Single submitter Inborn genetic diseases
  • c.267+2T>G No assertion criteria urinary bladder, atony of
  • p.Ser340Ter No assertion criteria urinary bladder, atony of
  • p.Thr337fs No assertion criteria urinary bladder, atony of

Likely pathogenic 10

  • c.223-1G>A Single submitter SMOKING AS A QUANTITATIVE TRAIT LOCUS 3
  • p.Gln367Ter Single submitter urinary bladder, atony of
  • p.Gly305Ter Single submitter SMOKING AS A QUANTITATIVE TRAIT LOCUS 3
  • p.Ile237fs Single submitter amyotrophic lateral sclerosis
  • p.Leu242fs Single submitter amyotrophic lateral sclerosis
  • p.Lys88Ter Single submitter SMOKING AS A QUANTITATIVE TRAIT LOCUS 3
  • p.Met1Val Single submitter amyotrophic lateral sclerosis
  • p.Ser435fs Single submitter SMOKING AS A QUANTITATIVE TRAIT LOCUS 3
  • p.Thr83fs Single submitter amyotrophic lateral sclerosis
  • p.Trp180Ter Single submitter urinary bladder, atony of

Conflicting classifications of pathogenicity 2

  • p.Leu303fs Single submitter CHRNA3-related disorder
  • p.Val289= Single submitter urinary bladder, atony of

Benign 19

Benign/Likely benign 2

  • p.Asp188= Multiple submitters SMOKING AS A QUANTITATIVE TRAIT LOCUS 3
  • p.Asp399= Multiple submitters SMOKING AS A QUANTITATIVE TRAIT LOCUS 3

Likely benign 44

Uncertain significance 114