ADCY4 — 152 ClinVar variants

All ClinVar germline ADCY4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →

2 Benign · 8 Likely benign · 142 Uncertain significance

Full ADCY4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 134

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 lean, ClinVar uncertain 110

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

Predictors split 24

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

All ADCY4 variants

Benign 2

c.3082-4G>T Multiple submitters
c.1824-3C>T Single submitter

Likely benign 8

p.Ala945Thr Single submitter
p.Glu468= Single submitter
p.Ile379= Single submitter
p.Leu174= Single submitter
p.Leu759= Single submitter
p.Pro508= Single submitter
p.Ser273= Single submitter
p.Ser703Phe Single submitter

Uncertain significance 142

p.Ala1035Val Single submitter ⚠
p.Ala241Ser Single submitter ⚠
p.Ala286Pro Single submitter ⚠
p.Ala401Ser Single submitter ⚠
p.Ala421Ser Single submitter ⚠
p.Ala421Val Single submitter ⚠
p.Ala423Gly Single submitter ⚠
p.Ala460Thr Single submitter ⚠
p.Ala48Gly Single submitter ⚠
p.Ala513Pro Single submitter ⚠
p.Ala695Val Single submitter ⚠
p.Ala851Thr Single submitter ⚠
p.Ala945Val Single submitter ⚠
p.Arg197Cys Single submitter ⚠
p.Arg200Pro Single submitter ⚠
p.Arg246Gln Single submitter ⚠
p.Arg246Trp Single submitter ⚠
p.Arg316Gln Single submitter ⚠
p.Arg343His Single submitter ⚠
p.Arg350Gln Single submitter ⚠
p.Arg356Gly Single submitter ⚠
p.Arg356Trp Single submitter ⚠
p.Arg366Cys Single submitter ⚠
p.Arg432Trp Single submitter ⚠
p.Arg437Gln Single submitter ⚠
p.Arg473His Single submitter ⚠
p.Arg523Trp Single submitter ⚠
p.Arg528Gln Single submitter ⚠
p.Arg528Trp Single submitter ⚠
p.Arg577Gln Single submitter ⚠
p.Arg659Gln Single submitter ⚠
p.Arg808His Single submitter ⚠
p.Arg815His Single submitter ⚠
p.Arg825Lys Single submitter ⚠
p.Arg859Gln Single submitter ⚠
p.Arg90Cys Single submitter ⚠
p.Asn299Lys Single submitter ⚠
p.Asn299Ser Single submitter ⚠
p.Asn903Ser Single submitter ⚠
p.Asp1065Gly Single submitter ⚠
p.Asp306His Single submitter ⚠
p.Asp448Asn Single submitter ⚠
p.Asp58Asn Single submitter ⚠
p.Asp881Asn Single submitter ⚠
p.Cys1058Phe Single submitter ⚠
p.Cys183Arg Single submitter ⚠
p.Cys638Tyr Single submitter ⚠
p.Glu1018Asp Single submitter ⚠
p.Glu1031Ala Single submitter ⚠
p.Glu468Gly Single submitter ⚠
p.Glu571Asp Single submitter ⚠
p.Glu575Lys Single submitter ⚠
p.Glu904Lys Single submitter ⚠
p.Gly1070Glu Single submitter ⚠
p.Gly137Val Single submitter ⚠
p.Gly157Arg Single submitter ⚠
p.Gly252Arg Single submitter ⚠
p.Gly372Ser Single submitter ⚠
p.Gly402Asp Single submitter ⚠
p.Gly406Arg Single submitter ⚠
p.Gly497Arg Single submitter ⚠
p.Gly52Val Single submitter
p.Gly537Arg Single submitter ⚠
p.Gly654Ser Single submitter ⚠
p.Gly667Asp Single submitter ⚠
p.Gly77Asp Single submitter ⚠
p.Gly895Asp Single submitter ⚠
p.Gly942Glu Single submitter ⚠
p.Gly957Ala Single submitter ⚠
p.His370Pro Single submitter ⚠
p.His398Gln Single submitter ⚠
p.His431Leu Single submitter ⚠
p.His737Arg Single submitter ⚠
p.His955Asn Single submitter ⚠
p.His989Gln Single submitter
p.Ile664Thr Single submitter ⚠
p.Ile891Phe Single submitter ⚠
p.Leu1066Val Single submitter ⚠
p.Leu158Val Single submitter ⚠
p.Leu296Phe Single submitter ⚠
p.Leu464Pro Single submitter ⚠
p.Leu604Ile Single submitter ⚠
p.Leu672Phe Single submitter ⚠
p.Leu682Pro Single submitter ⚠
p.Leu970Val Single submitter ⚠
p.Met195Leu Single submitter
p.Met244Ile Single submitter
p.Met399Ile Single submitter ⚠
p.Met478Leu Single submitter
p.Met834Thr Single submitter ⚠
p.Met959Thr Single submitter
p.Phe962Ile Single submitter ⚠
p.Pro1071Leu Single submitter ⚠
p.Pro1071Ser Single submitter ⚠
p.Pro11His Single submitter ⚠
p.Pro164Leu Single submitter ⚠
p.Pro164Thr Single submitter ⚠
p.Pro562Ser Single submitter ⚠
p.Pro610Leu Single submitter ⚠
p.Pro643Leu Single submitter ⚠
p.Pro880Ser Single submitter ⚠
p.Pro9Ser Single submitter ⚠
p.Ser1045Arg Single submitter ⚠
p.Ser12Ile Single submitter
p.Ser209Tyr Single submitter ⚠
p.Ser504Pro Single submitter ⚠
p.Ser689Pro Single submitter ⚠
p.Ser699Phe Single submitter ⚠
p.Ser700Cys Single submitter ⚠
p.Ser712Pro Single submitter ⚠
p.Ser766Leu Single submitter ⚠
p.Ser80Phe Single submitter ⚠
p.Ser868Phe Single submitter
p.Ser887Phe Single submitter ⚠
p.Ser919Arg Single submitter ⚠
p.Ser954Asn Single submitter ⚠
p.Ser954Gly Single submitter ⚠
p.Thr1010Arg Single submitter ⚠
p.Thr1029Ser Single submitter ⚠
p.Thr1032Ala Single submitter ⚠
p.Thr1042Pro Single submitter ⚠
p.Thr479Pro Single submitter ⚠
p.Thr503Pro Single submitter ⚠
p.Thr511Asn Single submitter ⚠
p.Thr56Ser Single submitter ⚠
p.Thr615Met Single submitter ⚠
p.Thr726Met Single submitter ⚠
p.Thr833Met Single submitter ⚠
p.Thr838Ser Single submitter ⚠
p.Trp707Arg Single submitter ⚠
p.Tyr20Cys Single submitter ⚠
p.Tyr422Ser Single submitter ⚠
p.Tyr435Cys Single submitter ⚠
p.Tyr587Cys Single submitter ⚠
p.Tyr774Cys Single submitter ⚠
p.Val1013Met Single submitter ⚠
p.Val126Leu Single submitter ⚠
p.Val342Met Single submitter ⚠
p.Val388Ile Single submitter ⚠
p.Val771Asp Single submitter ⚠
p.Val805Phe Single submitter ⚠
p.Val872Ile Single submitter ⚠