ADCY2 — 86 ClinVar variants

All ClinVar germline ADCY2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

5 Benign · 7 Likely benign · 74 Uncertain significance

Full ADCY2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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 53

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

Predictors split 20

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

All ADCY2 variants

Benign 5

c.2094+16C>T Multiple submitters
c.2094+6T>C Multiple submitters
p.Cys887= Multiple submitters
p.Ser928= Multiple submitters
c.1622+9TC[2] Single submitter

Likely benign 7

c.1956+4G>A Single submitter
p.Arg795= Single submitter
p.Asp922= Single submitter
p.Thr687= Single submitter
p.Val1089Leu Single submitter
p.Val587Ile Single submitter
p.Val627Ile Single submitter

Uncertain significance 74

p.Arg842Gln Multiple submitters ⚠
p.Ala634Val Single submitter ⚠
p.Ala63Gly Single submitter ⚠
p.Ala694Asp Single submitter ⚠
p.Ala694Gly Single submitter ⚠
p.Ala727Val Single submitter ⚠
p.Ala862Val Single submitter ⚠
p.Ala865Val Single submitter ⚠
p.Arg238Cys Single submitter ⚠
p.Arg538Cys Single submitter ⚠
p.Arg679Gln Single submitter ⚠
p.Asn697Asp Single submitter ⚠
p.Asn697Ser Single submitter ⚠
p.Asp445Tyr Single submitter ⚠
p.Cys366Arg Single submitter ⚠
p.Cys39Arg Single submitter ⚠
p.Cys654Arg Single submitter ⚠
p.Gln1051Lys Single submitter ⚠
p.Gln190Lys Single submitter ⚠
p.Gln262His Single submitter ⚠
p.Gln961Lys Single submitter ⚠
p.Glu591Lys Single submitter ⚠
p.Gly1035Arg Single submitter ⚠
p.Gly1054Arg Single submitter ⚠
p.Gly521Ser Single submitter ⚠
p.Gly670Val Single submitter ⚠
p.Gly69Arg Single submitter ⚠
p.Ile1020Thr Single submitter ⚠
p.Ile115Met Single submitter ⚠
p.Ile619Asn Single submitter ⚠
p.Ile88Val Single submitter ⚠
p.Leu187Met Single submitter ⚠
p.Leu192Pro Single submitter ⚠
p.Leu46Phe Single submitter ⚠
p.Leu785Pro Single submitter ⚠
p.Lys268Arg Single submitter ⚠
p.Met1080Val Single submitter ⚠
p.Met530Ile Single submitter ⚠
p.Met663Arg Single submitter ⚠
p.Met663Thr Single submitter ⚠
p.Met692Ile Single submitter ⚠
p.Met693Leu Single submitter ⚠
p.Met767Leu Single submitter ⚠
p.Met805Val Single submitter ⚠
p.Met968Val Single submitter ⚠
p.Phe140Ser Single submitter ⚠
p.Phe462Ser Single submitter ⚠
p.Phe477Tyr Single submitter ⚠
p.Phe696Ser Single submitter ⚠
p.Pro181Leu Single submitter ⚠
p.Pro27Arg Single submitter ⚠
p.Pro710Ala Single submitter ⚠
p.Pro796Ala Single submitter ⚠
p.Ser162Gly Single submitter ⚠
p.Ser350Pro Single submitter ⚠
p.Ser41Thr Single submitter ⚠
p.Ser57Thr Single submitter ⚠
p.Ser882Ala Single submitter ⚠
p.Thr165Ala Single submitter ⚠
p.Thr686Ala Single submitter ⚠
p.Thr707Ala Single submitter ⚠
p.Trp501Ser Single submitter ⚠
p.Tyr342Cys Single submitter ⚠
p.Tyr742His Single submitter ⚠
p.Val1089Met Single submitter ⚠
p.Val195Leu Single submitter ⚠
p.Val395Met Single submitter ⚠
p.Val425Gly Single submitter ⚠
p.Val645Ile Single submitter ⚠
p.Val64Leu Single submitter ⚠
p.Val64Phe Single submitter ⚠
p.Val695Ala Single submitter ⚠
p.Tyr497Asn No assertion criteria ADCY2-related disorder ⚠
p.Val163= No assertion criteria