Sugi Variant

Sugi Variant/AKR1C2

AKR1C2 — 116 ClinVar variants

All ClinVar germline AKR1C2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

4 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 51 Benign · 1 Benign/Likely benign · 11 Likely benign · 47 Uncertain significance

Full AKR1C2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 50

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 3

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

Predictors lean, ClinVar uncertain 15

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

Predictors split 32

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

All AKR1C2 variants

Pathogenic 4

  • p.Asn300Thr No assertion criteria 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency ⚠
  • p.His222Gln No assertion criteria 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency ⚠
  • p.His90Gln No assertion criteria 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency ⚠
  • p.Ile79Val No assertion criteria 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency ⚠

Likely pathogenic 1

  • p.Arg96Ter Single submitter 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

Conflicting classifications of pathogenicity 1

Benign 51

Benign/Likely benign 1

  • p.His222= Multiple submitters 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

Likely benign 11

Uncertain significance 47