Sugi Variant

Sugi Variant/ADCY5

ADCY5 — 976 ClinVar variants

All ClinVar germline ADCY5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 403 flagged for review →

24 Pathogenic · 2 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 56 Conflicting · 109 Benign · 27 Benign/Likely benign · 310 Likely benign · 418 Uncertain significance

Full ADCY5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 403

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 43

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 267

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 267

Predictors split 91

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

All ADCY5 variants

Pathogenic 24

  • c.2088+1G>A Multiple submitters dyskinesia with orofacial involvement, autosomal dominant
  • p.Ala60fs Multiple submitters neurodevelopmental disorder with hyperkinetic movements and dyskinesia
  • p.Ala726Thr Multiple submitters dyskinesia with orofacial involvement, autosomal dominant ⚠
  • p.Arg418Gln Multiple submitters ADCY5-related disorder
  • p.Arg418Trp Multiple submitters ADCY5-related disorder
  • p.Arg760Ter Multiple submitters dyskinesia with orofacial involvement, autosomal dominant
  • c.2088+2T>C Single submitter
  • p.Arg438fs Single submitter Inborn genetic diseases
  • p.Arg68fs Single submitter
  • p.Asp109fs Single submitter
  • p.Cys977Ter Single submitter
  • p.Gln875Ter Single submitter
  • p.Gly137fs Single submitter Inborn genetic diseases
  • p.Ile475Met Single submitter Inborn genetic diseases
  • p.Leu526fs Single submitter
  • p.Ser139fs Single submitter
  • p.Ser145fs Single submitter Inborn genetic diseases
  • p.Ser223Ter Single submitter
  • c.1947+1G>T No assertion criteria neurodevelopmental disorder with hyperkinetic movements and dyskinesia
  • c.2088+1G>T No assertion criteria dyskinesia with orofacial involvement, autosomal dominant
  • p.Arg1238Trp No assertion criteria neurodevelopmental disorder with hyperkinetic movements and dyskinesia
  • p.Lys694_Met696del No assertion criteria dyskinesia with orofacial involvement, autosomal dominant
  • p.Met1029Lys No assertion criteria dyskinesia with orofacial involvement, autosomal dominant
  • p.Tyr233His No assertion criteria dyskinesia with orofacial involvement, autosomal dominant

Pathogenic/Likely pathogenic 2

Likely pathogenic 30

Conflicting classifications of pathogenicity 56

Benign 109

Benign/Likely benign 27

  • c.1285-6C>T Multiple submitters Inborn genetic diseases
  • c.1285-8C>A Multiple submitters dyskinesia with orofacial involvement, autosomal recessive
  • c.1519-9G>T Multiple submitters
  • c.3064-18G>A Multiple submitters dyskinesia with orofacial involvement, autosomal recessive
  • c.3532+20G>T Multiple submitters dyskinesia with orofacial involvement, autosomal recessive
  • p.Ala1005= Multiple submitters dyskinesia with orofacial involvement, autosomal recessive
  • p.Arg117= Multiple submitters neurodevelopmental disorder with hyperkinetic movements and dyskinesia
  • p.Arg500= Multiple submitters
  • p.Asn629= Multiple submitters Inborn genetic diseases
  • p.Asn877= Multiple submitters
  • p.Asn957= Multiple submitters
  • p.Asp109Tyr Multiple submitters
  • p.Asp725= Multiple submitters
  • p.Cys522= Multiple submitters
  • p.Gln321= Multiple submitters dyskinesia with orofacial involvement, autosomal recessive
  • p.His1004= Multiple submitters dyskinesia with orofacial involvement, autosomal recessive
  • p.His44Tyr Multiple submitters dyskinesia with orofacial involvement, autosomal recessive
  • p.Ile1125= Multiple submitters dyskinesia with orofacial involvement, autosomal recessive
  • p.Ile827= Multiple submitters dyskinesia with orofacial involvement, autosomal dominant
  • p.Leu173= Multiple submitters
  • p.Leu251= Multiple submitters neurodevelopmental disorder with hyperkinetic movements and dyskinesia
  • p.Lys983= Multiple submitters
  • p.Phe498= Multiple submitters Inborn genetic diseases
  • p.Pro10Leu Multiple submitters dyskinesia with orofacial involvement, autosomal recessive
  • p.Pro1259= Multiple submitters dyskinesia with orofacial involvement, autosomal dominant
  • p.Ser403= Multiple submitters
  • p.Thr1232= Multiple submitters neurodevelopmental disorder with hyperkinetic movements and dyskinesia

Likely benign 310

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

Uncertain significance 418

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