Sugi Variant

Sugi Variant/BNC1

BNC1 — 139 ClinVar variants

All ClinVar germline BNC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 123 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 2 Benign · 8 Likely benign · 125 Uncertain significance

Full BNC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 123

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 89

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

Predictors split 33

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

All BNC1 variants

Pathogenic 1

  • p.Arg356fs No assertion criteria premature ovarian failure 16

Likely pathogenic 3

  • p.Phe207fs Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
  • p.Pro625fs Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
  • p.Thr758Ile Single submitter primary ovarian failure ⚠

Benign 2

Likely benign 8

Uncertain significance 125