Sugi Variant

Sugi Variant/BMP15

BMP15 — 79 ClinVar variants

All ClinVar germline BMP15 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →

8 Pathogenic · 4 Likely pathogenic · 3 Conflicting · 9 Benign · 4 Benign/Likely benign · 7 Likely benign · 44 Uncertain significance

Full BMP15 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 58

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 6

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

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 27

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

Predictors split 24

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

All BMP15 variants

Pathogenic 8

Likely pathogenic 4

  • p.Arg204Ter Single submitter hereditary chronic pancreatitis
  • p.His307Tyr No assertion criteria Genetic non-acquired premature ovarian failure ⚠
  • p.Met70Leu No assertion criteria Genetic non-acquired premature ovarian failure ⚠
  • p.Trp155fs No assertion criteria ovarian dysgenesis 2

Conflicting classifications of pathogenicity 3

Benign 9

Benign/Likely benign 4

Likely benign 7

Uncertain significance 44