Sugi Variant

Sugi Variant/AK1

AK1 — 102 ClinVar variants

All ClinVar germline AK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 2 Conflicting · 10 Benign · 7 Benign/Likely benign · 30 Likely benign · 43 Uncertain significance

Full AK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 39

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 2

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

Predictors lean, ClinVar uncertain 26

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

Predictors split 11

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

All AK1 variants

Pathogenic 6

  • p.Gln101Lys Single submitter Adenylate kinase deficiency
  • p.Arg128Trp No assertion criteria hemolytic anemia due to adenylate kinase deficiency
  • p.Asp141del No assertion criteria hemolytic anemia due to adenylate kinase deficiency
  • p.Gly40Arg No assertion criteria hemolytic anemia due to adenylate kinase deficiency
  • p.Gly64Arg No assertion criteria hemolytic anemia due to adenylate kinase deficiency
  • p.Tyr164Cys No assertion criteria hemolytic anemia due to adenylate kinase deficiency

Pathogenic/Likely pathogenic 1

  • p.Arg107Ter Multiple submitters hemolytic anemia due to adenylate kinase deficiency

Likely pathogenic 3

  • c.44-5_48delinsC Single submitter hemolytic anemia due to adenylate kinase deficiency
  • p.Arg132His Single submitter
  • p.Lys56Ter Single submitter hemolytic anemia due to adenylate kinase deficiency

Conflicting classifications of pathogenicity 2

Benign 10

Benign/Likely benign 7

  • c.325-9C>T Multiple submitters hemolytic anemia due to adenylate kinase deficiency
  • c.516+11C>T Multiple submitters hemolytic anemia due to adenylate kinase deficiency
  • c.8-376C>T Multiple submitters hemolytic anemia due to adenylate kinase deficiency
  • p.Ala162Thr Multiple submitters hemolytic anemia due to adenylate kinase deficiency
  • p.Ala82= Multiple submitters hemolytic anemia due to adenylate kinase deficiency
  • p.Ser51= Multiple submitters hemolytic anemia due to adenylate kinase deficiency
  • p.Tyr34= Multiple submitters hemolytic anemia due to adenylate kinase deficiency

Likely benign 30

Uncertain significance 43