ADCY7 — 145 ClinVar variants

All ClinVar germline ADCY7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →

1 Conflicting · 7 Benign · 11 Likely benign · 126 Uncertain significance

Full ADCY7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 120

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 1

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

ADCY7 p.Ser60Pro Conflicting Single submitter

Predictors lean, ClinVar uncertain 97

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

Predictors split 22

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

All ADCY7 variants

Conflicting classifications of pathogenicity 1

p.Ser60Pro Single submitter ⚠

Benign 7

p.Arg1051= Multiple submitters
p.Gly555= Multiple submitters
p.His343= Multiple submitters
p.Ser944= Multiple submitters
c.2061+9C>T Single submitter
c.949-10C>T Single submitter
p.Ala480Val Single submitter

Likely benign 11

p.Ile933= Multiple submitters
p.Ala43Val Single submitter
p.Ala53Thr Single submitter
p.Ala708Val Single submitter
p.Arg145Gln Single submitter
p.Arg660Ser Single submitter
p.His595= Single submitter
p.Thr618Met Single submitter ⚠
p.Val610Ile Single submitter
p.Val612= Single submitter
p.Val85= Single submitter

Uncertain significance 126

p.Ala195Val Single submitter ⚠
p.Ala204Val Single submitter ⚠
p.Ala344Val Single submitter ⚠
p.Ala43Ser Single submitter ⚠
p.Ala43Thr Single submitter ⚠
p.Ala474Val Single submitter ⚠
p.Ala619Thr Single submitter ⚠
p.Ala859Thr Single submitter ⚠
p.Ala95Ser Single submitter ⚠
p.Ala970Thr Single submitter ⚠
p.Arg219Cys Single submitter ⚠
p.Arg219His Single submitter ⚠
p.Arg223Gly Single submitter ⚠
p.Arg223Ser Single submitter
p.Arg259Cys Single submitter ⚠
p.Arg259His Single submitter ⚠
p.Arg345Gln Single submitter ⚠
p.Arg345Gly Single submitter ⚠
p.Arg388Leu Single submitter ⚠
p.Arg413Gln Single submitter ⚠
p.Arg413Trp Single submitter ⚠
p.Arg456Gln Single submitter ⚠
p.Arg456Trp Single submitter ⚠
p.Arg486Gln Single submitter ⚠
p.Arg486Trp Single submitter ⚠
p.Arg495Leu Single submitter
p.Arg503Cys Single submitter ⚠
p.Arg528Gln Single submitter ⚠
p.Arg528Trp Single submitter ⚠
p.Arg592Trp Single submitter ⚠
p.Arg594Cys Single submitter ⚠
p.Arg846Cys Single submitter ⚠
p.Arg906Cys Single submitter ⚠
p.Arg91Cys Single submitter ⚠
p.Arg91His Single submitter ⚠
p.Arg956Gln Single submitter ⚠
p.Asn10Lys Single submitter ⚠
p.Asn515Ser Single submitter ⚠
p.Asn867Lys Single submitter
p.Asp19Glu Single submitter ⚠
p.Asp19Val Single submitter ⚠
p.Asp207Glu Single submitter ⚠
p.Asp473Gly Single submitter ⚠
p.Asp567Asn Single submitter ⚠
p.Asp567Glu Single submitter ⚠
p.Asp58Gly Single submitter ⚠
p.Asp596Asn Single submitter ⚠
p.Asp916Asn Single submitter ⚠
p.Cys215Tyr Single submitter ⚠
p.Cys332Trp Single submitter ⚠
p.Cys639Trp Single submitter ⚠
p.Cys647Tyr Single submitter ⚠
p.Cys764Arg Single submitter
p.Cys877Ser Single submitter ⚠
p.Gln290Leu Single submitter ⚠
p.Gln524Arg Single submitter ⚠
p.Glu1035Lys Single submitter ⚠
p.Glu13Lys Single submitter ⚠
p.Glu489Lys Single submitter ⚠
p.Glu850Ala Single submitter ⚠
p.Glu850Gly Single submitter ⚠
p.Glu955Gln Single submitter ⚠
p.Gly1078Ala Single submitter ⚠
p.Gly32Glu Single submitter ⚠
p.Gly516Glu Single submitter ⚠
p.Gly580Asp Single submitter ⚠
p.Gly626Trp Single submitter ⚠
p.Gly729Val Single submitter
p.Gly773Val Single submitter ⚠
p.His423Asn Single submitter ⚠
p.His434Gln Single submitter ⚠
p.His595Arg Single submitter ⚠
p.His958Arg Single submitter ⚠
p.Ile249Val Single submitter ⚠
p.Ile447Val Single submitter ⚠
p.Ile553Thr Single submitter ⚠
p.Ile607Val Single submitter ⚠
p.Ile657Val Single submitter ⚠
p.Ile817Phe Single submitter ⚠
p.Ile961Val Single submitter ⚠
p.Leu697Val Single submitter ⚠
p.Leu715Val Single submitter ⚠
p.Leu71Pro Single submitter ⚠
p.Leu748Pro Single submitter ⚠
p.Leu93Phe Single submitter ⚠
p.Lys830Met Single submitter ⚠
p.Lys889Arg Single submitter ⚠
p.Met201Ile Single submitter
p.Met445Ile Single submitter
p.Met739Arg Single submitter ⚠
p.Met798Val Single submitter ⚠
p.Pro519Ser Single submitter ⚠
p.Pro536Ser Single submitter ⚠
p.Pro589Thr Single submitter ⚠
p.Pro665Leu Single submitter ⚠
p.Pro691Ser Single submitter ⚠
p.Pro718Thr Single submitter ⚠
p.Ser269Asn Single submitter ⚠
p.Ser339Leu Single submitter ⚠
p.Ser557Gly Single submitter ⚠
p.Ser944Gly Single submitter ⚠
p.Thr1069Met Single submitter ⚠
p.Thr28Ile Single submitter ⚠
p.Thr37Met Single submitter ⚠
p.Thr420Met Single submitter ⚠
p.Thr559Lys Single submitter ⚠
p.Thr723Pro Single submitter ⚠
p.Tyr1046His Single submitter ⚠
p.Tyr109Cys Single submitter ⚠
p.Tyr211Cys Single submitter ⚠
p.Tyr331Cys Single submitter ⚠
p.Tyr802His Single submitter ⚠
p.Val1016Ile Single submitter
p.Val1056Ile Single submitter ⚠
p.Val110Met Single submitter ⚠
p.Val150Ile Single submitter ⚠
p.Val185Ala Single submitter ⚠
p.Val301Ala Single submitter ⚠
p.Val414Met Single submitter ⚠
p.Val41Met Single submitter ⚠
p.Val430Ala Single submitter ⚠
p.Val47Met Single submitter ⚠
p.Val513Ile Single submitter ⚠
p.Val682Leu Single submitter ⚠
p.Val727Ala Single submitter ⚠
p.Val85Ile Single submitter ⚠