Sugi Variant

Sugi Variant/AK2

AK2 — 237 ClinVar variants

All ClinVar germline AK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 91 flagged for review →

14 Pathogenic · 3 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 3 Conflicting · 20 Benign · 7 Benign/Likely benign · 81 Likely benign · 96 Uncertain significance

Full AK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 91

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 1

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

Predictors lean, ClinVar uncertain 51

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 AK2 variants

Pathogenic 14

  • c.330+5G>A Multiple submitters reticular dysgenesis
  • p.Gly29fs Multiple submitters reticular dysgenesis
  • p.Met1Val Multiple submitters severe combined immunodeficiency
  • p.Arg137Ter Single submitter reticular dysgenesis
  • p.Asp165Gly Single submitter reticular dysgenesis
  • p.Met1Ile Single submitter reticular dysgenesis
  • p.Tyr152fs Single submitter reticular dysgenesis
  • p.Val125fs Single submitter reticular dysgenesis
  • c.331-1G>A No assertion criteria reticular dysgenesis
  • p.Arg175fs No assertion criteria reticular dysgenesis
  • p.Cys40fs No assertion criteria reticular dysgenesis
  • p.Glu9Ter No assertion criteria reticular dysgenesis
  • p.Lys233Ter No assertion criteria reticular dysgenesis
  • p.Ser213fs No assertion criteria reticular dysgenesis

Pathogenic/Likely pathogenic 3

  • c.498+1G>A Multiple submitters severe combined immunodeficiency
  • p.Ala182Asp Multiple submitters reticular dysgenesis
  • p.Arg103Trp Multiple submitters severe combined immunodeficiency

Likely pathogenic 13

Conflicting classifications of pathogenicity 3

Benign 20

Benign/Likely benign 7

  • c.-4G>T Multiple submitters
  • p.Ala209Thr Multiple submitters reticular dysgenesis
  • p.Gln214= Multiple submitters reticular dysgenesis
  • p.Glu154Lys Multiple submitters reticular dysgenesis ⚠
  • p.Glu199= Multiple submitters reticular dysgenesis
  • p.Lys85= Multiple submitters reticular dysgenesis
  • p.Tyr201= Multiple submitters reticular dysgenesis

Likely benign 81

Uncertain significance 96