ADCY8 — 155 ClinVar variants

All ClinVar germline ADCY8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →

4 Benign · 2 Likely benign · 149 Uncertain significance

Full ADCY8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 142

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 32

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

All ADCY8 variants

Benign 4

p.Ala1194= Multiple submitters
p.Ala992= Multiple submitters
p.Asn1204= Multiple submitters
p.Val315= Multiple submitters

Likely benign 2

p.Cys517= Single submitter
p.Val983= Single submitter

Uncertain significance 149

p.Ala1069Thr Single submitter ⚠
p.Ala1194Thr Single submitter ⚠
p.Ala1194Val Single submitter ⚠
p.Ala135Ser Single submitter ⚠
p.Ala204Gly Single submitter ⚠
p.Ala260Val Single submitter ⚠
p.Ala295Ser Single submitter ⚠
p.Ala30Ser Single submitter ⚠
p.Ala72Glu Single submitter ⚠
p.Ala824Ser Single submitter ⚠
p.Arg1129Gln Single submitter ⚠
p.Arg1129Trp Single submitter ⚠
p.Arg112Pro Single submitter ⚠
p.Arg1150Gln Single submitter ⚠
p.Arg1227Gln Single submitter ⚠
p.Arg1228Trp Single submitter ⚠
p.Arg158Ser Single submitter ⚠
p.Arg172Leu Single submitter
p.Arg179Cys Single submitter ⚠
p.Arg28Ser Single submitter ⚠
p.Arg372Gln Single submitter
p.Arg380Gln Single submitter
p.Arg448Gln Single submitter ⚠
p.Arg448Pro Single submitter ⚠
p.Arg457His Single submitter ⚠
p.Arg475His Single submitter ⚠
p.Arg523Lys Single submitter
p.Arg55Trp Single submitter ⚠
p.Arg611Gly Single submitter ⚠
p.Arg611Trp Single submitter ⚠
p.Arg772Trp Single submitter ⚠
p.Arg7Leu Single submitter ⚠
p.Arg883Cys Single submitter ⚠
p.Arg883His Single submitter ⚠
p.Arg924His Single submitter ⚠
p.Arg961Cys Single submitter ⚠
p.Arg99Gln Single submitter ⚠
p.Asn159Ser Single submitter ⚠
p.Asn581Ser Single submitter ⚠
p.Asp1019Asn Single submitter ⚠
p.Asp1055Val Single submitter ⚠
p.Asp209Glu Single submitter ⚠
p.Asp389Asn Single submitter ⚠
p.Asp676Asn Single submitter ⚠
p.Asp697Glu Single submitter ⚠
p.Asp810Gly Single submitter ⚠
p.Asp86Tyr Single submitter ⚠
p.Asp969Ala Single submitter ⚠
p.Cys1053Tyr Single submitter ⚠
p.Cys1061Arg Single submitter ⚠
p.Gln1075Arg Single submitter ⚠
p.Gln1143Glu Single submitter ⚠
p.Gln1143His Single submitter ⚠
p.Glu1054Lys Single submitter ⚠
p.Glu1152Ala Single submitter ⚠
p.Glu1152Asp Single submitter ⚠
p.Glu394Gly Single submitter ⚠
p.Glu572Lys Single submitter ⚠
p.Gly1128Ser Single submitter ⚠
p.Gly116Cys Single submitter ⚠
p.Gly116Ser Single submitter ⚠
p.Gly1244Val Single submitter ⚠
p.Gly128Asp Single submitter ⚠
p.Gly146Cys Single submitter ⚠
p.Gly213Ser Single submitter ⚠
p.Gly25Asp Single submitter ⚠
p.Gly25Ser Single submitter ⚠
p.Gly261Ser Single submitter ⚠
p.Gly27Arg Single submitter ⚠
p.Gly53Arg Single submitter ⚠
p.Gly561Asp Single submitter ⚠
p.Gly561Ser Single submitter ⚠
p.Gly64Ser Single submitter ⚠
p.Gly73Ser Single submitter ⚠
p.His397Tyr Single submitter ⚠
p.His44Asn Single submitter ⚠
p.His480Tyr Single submitter ⚠
p.Ile1158Phe Single submitter ⚠
p.Ile18Val Single submitter ⚠
p.Ile293Met Single submitter ⚠
p.Ile293Phe Single submitter ⚠
p.Ile632Val Single submitter ⚠
p.Ile647Val Single submitter ⚠
p.Ile793Thr Single submitter ⚠
p.Ile795Thr Single submitter ⚠
p.Leu1022Phe Single submitter ⚠
p.Leu1250Phe Single submitter ⚠
p.Leu166Phe Single submitter ⚠
p.Leu266Ile Single submitter ⚠
p.Leu378Phe Single submitter ⚠
p.Leu3Phe Single submitter ⚠
p.Leu693Pro Single submitter ⚠
p.Leu83Pro Single submitter ⚠
p.Leu89Gln Single submitter ⚠
p.Leu94Val Single submitter ⚠
p.Leu955Phe Single submitter ⚠
p.Lys703Glu Single submitter ⚠
p.Met329Thr Single submitter ⚠
p.Met694Ile Single submitter ⚠
p.Phe894Val Single submitter ⚠
p.Pro110Gln Single submitter ⚠
p.Pro1178Ala Single submitter ⚠
p.Pro1178Gln Single submitter ⚠
p.Pro207Leu Single submitter ⚠
p.Pro311Ser Single submitter ⚠
p.Pro474Leu Single submitter ⚠
p.Pro546Ser Single submitter ⚠
p.Pro71Ala Single submitter ⚠
p.Pro90Ser Single submitter ⚠
p.Ser115Asn Single submitter ⚠
p.Ser148Ile Single submitter ⚠
p.Ser29Arg Single submitter ⚠
p.Ser342Pro Single submitter ⚠
p.Ser60Arg Single submitter ⚠
p.Ser62Asn Single submitter ⚠
p.Ser65Leu Single submitter ⚠
p.Ser65Trp Single submitter ⚠
p.Ser69Thr Single submitter ⚠
p.Ser812Leu Single submitter ⚠
p.Ser87Leu Single submitter ⚠
p.Ser93Leu Single submitter ⚠
p.Thr1167Arg Single submitter ⚠
p.Thr240Arg Single submitter ⚠
p.Thr290Ile Single submitter ⚠
p.Thr290Ser Single submitter ⚠
p.Thr391Ile Single submitter ⚠
p.Thr555Met Single submitter ⚠
p.Thr619Ile Single submitter ⚠
p.Thr674Ile Single submitter
p.Thr839Met Single submitter
p.Tyr1137Cys Single submitter ⚠
p.Tyr465Cys Single submitter ⚠
p.Tyr835His Single submitter ⚠
p.Tyr877Ser Single submitter ⚠
p.Tyr92Phe Single submitter ⚠
p.Val1043Met Single submitter ⚠
p.Val1126Phe Single submitter ⚠
p.Val184Met Single submitter ⚠
p.Val187Leu Single submitter ⚠
p.Val231Leu Single submitter ⚠
p.Val231Met Single submitter ⚠
p.Val274Leu Single submitter
p.Val393Met Single submitter ⚠
p.Val42Leu Single submitter ⚠
p.Val436Leu Single submitter ⚠
p.Val633Met Single submitter ⚠
p.Val722Ile Single submitter ⚠
p.Val841Leu Single submitter ⚠
p.Val845Met Single submitter ⚠