Sugi Variant

Sugi Variant/DNASE2

DNASE2 — 189 ClinVar variants

All ClinVar germline DNASE2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

3 Pathogenic · 4 Conflicting · 7 Benign · 2 Benign/Likely benign · 83 Likely benign · 90 Uncertain significance

Full DNASE2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 82

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 3

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

Predictors lean, ClinVar uncertain 40

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

Predictors split 39

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

All DNASE2 variants

Pathogenic 3

  • p.Asp121Val No assertion criteria autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
  • p.Gly116Ala No assertion criteria autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
  • p.Tyr95Cys No assertion criteria autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency

Conflicting classifications of pathogenicity 4

Benign 7

Benign/Likely benign 2

Likely benign 83

Uncertain significance 90