Sugi Variant

Sugi Variant/BNC2

BNC2 — 321 ClinVar variants

All ClinVar germline BNC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 208 flagged for review →

2 Pathogenic · 9 Conflicting · 25 Benign · 9 Benign/Likely benign · 62 Likely benign · 214 Uncertain significance

Full BNC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 208

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 7

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

Predictors lean, ClinVar uncertain 164

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 164

Predictors split 37

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

All BNC2 variants

Pathogenic 2

  • c.2636+499C>T No assertion criteria lower urinary tract obstruction, congenital
  • p.His888Arg No assertion criteria lower urinary tract obstruction, congenital

Conflicting classifications of pathogenicity 9

Benign 25

Benign/Likely benign 9

Likely benign 62

Uncertain significance 214