Sugi Variant

Sugi Variant/ERBB3

ERBB3 — 221 ClinVar variants

All ClinVar germline ERBB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →

7 Pathogenic · 15 Likely pathogenic · 5 Conflicting · 32 Benign · 5 Benign/Likely benign · 62 Likely benign · 95 Uncertain significance

Full ERBB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 94

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 agree, ClinVar conflicts 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 67

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

Predictors split 22

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

All ERBB3 variants

Pathogenic 7

  • c.1914-7C>G Single submitter visceral neuropathy, familial, 1, autosomal recessive
  • c.2942_2945del Single submitter visceral neuropathy, familial, 1, autosomal recessive
  • p.Arg103Cys No assertion criteria urinary bladder cancer
  • p.Glu928Lys No assertion criteria urinary bladder cancer
  • p.His1100fs No assertion criteria visceral neuropathy, familial, 1, autosomal recessive
  • p.Met60Ile No assertion criteria urinary bladder cancer ⚠
  • p.Val104Met No assertion criteria urinary bladder cancer

Likely pathogenic 15

  • c.1184-9A>G Single submitter lethal congenital contracture syndrome 2
  • c.2274+1G>A Single submitter
  • c.234+2T>C Single submitter ERBB3-related disorder
  • c.3202-2A>G Single submitter lethal congenital contracture syndrome 2
  • c.547_547+2del Single submitter
  • c.83-2A>G Single submitter erythroleukemia, familial, susceptibility to
  • c.874+1G>A Single submitter visceral neuropathy, familial, 1, autosomal recessive
  • p.Arg444Ter Single submitter ERBB3-related disorder
  • p.Asp628fs Single submitter ERBB3-related disorder
  • p.Ile418Thr Single submitter lethal congenital contracture syndrome 2
  • p.Ser1075fs Single submitter erythroleukemia, familial, susceptibility to
  • p.Thr787Pro Single submitter visceral neuropathy, familial, 1, autosomal recessive
  • p.Trp79Ter Single submitter erythroleukemia, familial, susceptibility to
  • p.Trp814Ter Single submitter lethal congenital contracture syndrome 2
  • p.Val899Met Single submitter visceral neuropathy, familial, 1, autosomal recessive

Conflicting classifications of pathogenicity 5

Benign 32

Benign/Likely benign 5

Likely benign 62

Uncertain significance 95