Sugi Variant

Sugi Variant/IRF2BP2

IRF2BP2 — 771 ClinVar variants

All ClinVar germline IRF2BP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 417 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 11 Conflicting · 5 Benign · 20 Benign/Likely benign · 244 Likely benign · 487 Uncertain significance

Full IRF2BP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 417

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 334

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 334

Predictors split 76

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

All IRF2BP2 variants

Pathogenic 1

  • p.Trp298Ter Single submitter immunodeficiency, common variable, 14

Likely pathogenic 3

  • p.Cys506Ter Single submitter immunodeficiency, common variable, 14
  • p.Glu105fs No assertion criteria immunodeficiency, common variable, 14
  • p.Pro73fs No assertion criteria immunodeficiency, common variable, 14

Conflicting classifications of pathogenicity 11

Benign 5

  • c.-4G>C Multiple submitters immunodeficiency, common variable, 14
  • p.Asn373= Multiple submitters
  • p.Glu385= Multiple submitters
  • p.Gly470= Multiple submitters
  • p.Pro25= Multiple submitters immunodeficiency, common variable, 14

Benign/Likely benign 20

Likely benign 244

Uncertain significance 487

Showing the top 300 by review status; the full set is in the sitemap.