AKAP3 — 124 ClinVar variants
All ClinVar germline AKAP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 106 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 2 Benign · 12 Likely benign · 107 Uncertain significance
Full AKAP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 106
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 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKAP3 p.Ala477Val Uncertain significance Single submitter
- AKAP3 p.Ala693Gly Uncertain significance Single submitter
- AKAP3 p.Ala810Thr Uncertain significance Single submitter
- AKAP3 p.Arg130His Uncertain significance Single submitter
- AKAP3 p.Arg140Cys Uncertain significance Single submitter
- AKAP3 p.Arg140Leu Uncertain significance Single submitter
- AKAP3 p.Arg249Cys Uncertain significance Single submitter
- AKAP3 p.Arg249His Uncertain significance Single submitter
- AKAP3 p.Arg263Pro Uncertain significance Single submitter
- AKAP3 p.Arg269Gln Uncertain significance Single submitter
- AKAP3 p.Arg599Trp Uncertain significance Single submitter
- AKAP3 p.Arg60Gln Uncertain significance Single submitter
- AKAP3 p.Asn144Thr Uncertain significance Single submitter
- AKAP3 p.Asn180Tyr Uncertain significance Single submitter
- AKAP3 p.Asn383Ser Uncertain significance Single submitter
- AKAP3 p.Asn761Asp Uncertain significance Single submitter
- AKAP3 p.Asn834Ile Uncertain significance Single submitter
- AKAP3 p.Asn834Ser Uncertain significance Single submitter
- AKAP3 p.Asp399His Uncertain significance Single submitter
- AKAP3 p.Asp414Gly Uncertain significance Single submitter
- AKAP3 p.Asp569Asn Uncertain significance Single submitter
- AKAP3 p.Asp58Val Uncertain significance Single submitter
- AKAP3 p.Asp625Asn Uncertain significance Single submitter
- AKAP3 p.Asp689Tyr Uncertain significance Single submitter
- AKAP3 p.Asp697Asn Uncertain significance Single submitter
- AKAP3 p.Asp84Gly Uncertain significance Single submitter
- AKAP3 p.Gln228Arg Uncertain significance Single submitter
- AKAP3 p.Gln368Glu Uncertain significance Single submitter
- AKAP3 p.Gln620Glu Uncertain significance Single submitter
- AKAP3 p.Glu392Lys Uncertain significance Single submitter
- AKAP3 p.Glu441Asp Uncertain significance Single submitter
- AKAP3 p.Glu727Lys Uncertain significance Single submitter
- AKAP3 p.Glu819Lys Uncertain significance Single submitter
- AKAP3 p.Gly542Glu Uncertain significance Single submitter
- AKAP3 p.Gly64Arg Uncertain significance Single submitter
- AKAP3 p.Gly652Ala Uncertain significance Single submitter
- AKAP3 p.Gly798Trp Uncertain significance Single submitter
- AKAP3 p.Ile174Thr Uncertain significance Single submitter
- AKAP3 p.Ile300Val Uncertain significance Single submitter
- AKAP3 p.Ile316Leu Uncertain significance Single submitter
- AKAP3 p.Ile500Val Uncertain significance Single submitter
- AKAP3 p.Leu178Phe Uncertain significance Single submitter
- AKAP3 p.Leu323Phe Uncertain significance Single submitter
- AKAP3 p.Lys194Glu Uncertain significance Single submitter
- AKAP3 p.Lys225Glu Uncertain significance Single submitter
- AKAP3 p.Lys238Arg Uncertain significance Single submitter
- AKAP3 p.Lys429Gln Uncertain significance Single submitter
- AKAP3 p.Lys587Glu Uncertain significance Single submitter
- AKAP3 p.Lys588Glu Uncertain significance Single submitter
- AKAP3 p.Lys623Met Uncertain significance Single submitter
- AKAP3 p.Lys79Arg Uncertain significance Single submitter
- AKAP3 p.Met138Val Uncertain significance Single submitter
- AKAP3 p.Met296Leu Uncertain significance Single submitter
- AKAP3 p.Met349Leu Uncertain significance Single submitter
- AKAP3 p.Met424Ile Uncertain significance Single submitter
- AKAP3 p.Met656Leu Uncertain significance Single submitter
- AKAP3 p.Met850Val Uncertain significance Single submitter
- AKAP3 p.Pro196Ser Uncertain significance Single submitter
- AKAP3 p.Pro210Ala Uncertain significance Single submitter
- AKAP3 p.Pro438Leu Uncertain significance Single submitter
- AKAP3 p.Pro513Ser Uncertain significance Single submitter
- AKAP3 p.Pro577Ala Uncertain significance Single submitter
- AKAP3 p.Pro618Leu Uncertain significance Single submitter
- AKAP3 p.Pro637Leu Uncertain significance Single submitter
- AKAP3 p.Pro638His Uncertain significance Single submitter
- AKAP3 p.Pro647Leu Uncertain significance Single submitter
- AKAP3 p.Ser150Pro Uncertain significance Single submitter
- AKAP3 p.Ser187Cys Uncertain significance Single submitter
- AKAP3 p.Ser203Leu Uncertain significance Single submitter
- AKAP3 p.Ser205Leu Uncertain significance Single submitter
- AKAP3 p.Ser206Thr Uncertain significance Single submitter
- AKAP3 p.Ser343Gly Uncertain significance Single submitter
- AKAP3 p.Ser356Leu Uncertain significance Single submitter
- AKAP3 p.Ser635Tyr Uncertain significance Single submitter
- AKAP3 p.Ser708Leu Uncertain significance Single submitter
- AKAP3 p.Ser713Gly Uncertain significance Single submitter
- AKAP3 p.Thr278Met Uncertain significance Single submitter
- AKAP3 p.Thr311Ala Uncertain significance Single submitter
- AKAP3 p.Thr36Met Uncertain significance Single submitter
- AKAP3 p.Thr723Ile Uncertain significance Single submitter
- AKAP3 p.Thr756Met Uncertain significance Single submitter
- AKAP3 p.Tyr404Phe Uncertain significance Single submitter
- AKAP3 p.Tyr641Phe Uncertain significance Single submitter
- AKAP3 p.Val245Met Uncertain significance Single submitter
- AKAP3 p.Val292Met Uncertain significance Single submitter
- AKAP3 p.Val293Ile Uncertain significance Single submitter
- AKAP3 p.Val321Ile Uncertain significance Single submitter
- AKAP3 p.Val362Phe Uncertain significance Single submitter
- AKAP3 p.Val59Ala Uncertain significance Single submitter
- AKAP3 p.Val622Ile Uncertain significance Single submitter
- AKAP3 p.Val776Gly Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- AKAP3 p.Ala836Val Uncertain significance Single submitter
- AKAP3 p.Arg826Pro Uncertain significance Single submitter
-
AKAP3 p.Cys15Tyr
Likely pathogenic
Single submitter
spermatogenic failure 82
- AKAP3 p.Gly450Asp Uncertain significance Single submitter
- AKAP3 p.Gly457Arg Uncertain significance Single submitter
- AKAP3 p.Ile136Thr Uncertain significance Single submitter
- AKAP3 p.Ile454Asn Uncertain significance Single submitter
- AKAP3 p.Leu777Phe Uncertain significance Single submitter
- AKAP3 p.Met349Thr Uncertain significance Single submitter
- AKAP3 p.Met674Ile Uncertain significance Single submitter
- AKAP3 p.Phe354Ile Uncertain significance Single submitter
- AKAP3 p.Ser676Pro Uncertain significance Single submitter
- AKAP3 p.Val41Glu Uncertain significance Single submitter
- AKAP3 p.Val759Phe Uncertain significance Single submitter
- AKAP3 p.Val824Leu Uncertain significance Single submitter
All AKAP3 variants
Pathogenic 1
- p.His762fs No assertion criteria spermatogenic failure 82
Likely pathogenic 2
- p.Cys15Tyr Single submitter spermatogenic failure 82 ⚠
- p.Ser291fs Single submitter spermatogenic failure 82
Likely benign 12
- p.Ala446Val Single submitter
- p.Arg263Trp Single submitter
- p.Arg486Cys Single submitter
- p.Arg639Lys Single submitter
- p.Asp252Gly Single submitter
- p.Gln611Arg Single submitter
- p.Gly701= Single submitter
- p.His476Arg Single submitter
- p.Leu472Pro Single submitter
- p.Ser700= Single submitter
- p.Tyr518Cys Single submitter
- p.Val851Ala Single submitter
Uncertain significance 107
- p.Ala477Val Single submitter ⚠
- p.Ala693Gly Single submitter ⚠
- p.Ala810Thr Single submitter ⚠
- p.Ala836Val Single submitter ⚠
- p.Arg130His Single submitter ⚠
- p.Arg140Cys Single submitter ⚠
- p.Arg140Leu Single submitter ⚠
- p.Arg249Cys Single submitter ⚠
- p.Arg249His Single submitter ⚠
- p.Arg263Pro Single submitter ⚠
- p.Arg269Gln Single submitter ⚠
- p.Arg599Trp Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Arg826Pro Single submitter ⚠
- p.Asn144Thr Single submitter ⚠
- p.Asn180Tyr Single submitter ⚠
- p.Asn383Ser Single submitter ⚠
- p.Asn761Asp Single submitter ⚠
- p.Asn834Ile Single submitter ⚠
- p.Asn834Ser Single submitter ⚠
- p.Asp399His Single submitter ⚠
- p.Asp414Gly Single submitter ⚠
- p.Asp569Asn Single submitter ⚠
- p.Asp58Val Single submitter ⚠
- p.Asp625Asn Single submitter ⚠
- p.Asp689Tyr Single submitter ⚠
- p.Asp697Asn Single submitter ⚠
- p.Asp84Gly Single submitter ⚠
- p.Gln228Arg Single submitter ⚠
- p.Gln368Glu Single submitter ⚠
- p.Gln620Glu Single submitter ⚠
- p.Glu392Lys Single submitter ⚠
- p.Glu441Asp Single submitter ⚠
- p.Glu727Lys Single submitter ⚠
- p.Glu819Lys Single submitter ⚠
- p.Gly450Asp Single submitter ⚠
- p.Gly457Arg Single submitter ⚠
- p.Gly542Glu Single submitter ⚠
- p.Gly64Arg Single submitter ⚠
- p.Gly652Ala Single submitter ⚠
- p.Gly794Arg Single submitter
- p.Gly798Trp Single submitter ⚠
- p.Ile136Thr Single submitter ⚠
- p.Ile174Thr Single submitter ⚠
- p.Ile300Val Single submitter ⚠
- p.Ile316Leu Single submitter ⚠
- p.Ile454Asn Single submitter ⚠
- p.Ile500Val Single submitter ⚠
- p.Leu178Phe Single submitter ⚠
- p.Leu323Phe Single submitter ⚠
- p.Leu777Phe Single submitter ⚠
- p.Lys194Glu Single submitter ⚠
- p.Lys225Glu Single submitter ⚠
- p.Lys238Arg Single submitter ⚠
- p.Lys429Gln Single submitter ⚠
- p.Lys587Glu Single submitter ⚠
- p.Lys588Glu Single submitter ⚠
- p.Lys623Met Single submitter ⚠
- p.Lys79Arg Single submitter ⚠
- p.Met138Val Single submitter ⚠
- p.Met296Leu Single submitter ⚠
- p.Met349Leu Single submitter ⚠
- p.Met349Thr Single submitter ⚠
- p.Met349Val Single submitter
- p.Met424Ile Single submitter ⚠
- p.Met656Leu Single submitter ⚠
- p.Met674Ile Single submitter ⚠
- p.Met850Val Single submitter ⚠
- p.Phe354Ile Single submitter ⚠
- p.Pro196Ser Single submitter ⚠
- p.Pro210Ala Single submitter ⚠
- p.Pro438Leu Single submitter ⚠
- p.Pro513Ser Single submitter ⚠
- p.Pro577Ala Single submitter ⚠
- p.Pro618Leu Single submitter ⚠
- p.Pro637Leu Single submitter ⚠
- p.Pro638His Single submitter ⚠
- p.Pro647Leu Single submitter ⚠
- p.Ser150Pro Single submitter ⚠
- p.Ser187Cys Single submitter ⚠
- p.Ser203Leu Single submitter ⚠
- p.Ser205Leu Single submitter ⚠
- p.Ser206Thr Single submitter ⚠
- p.Ser343Gly Single submitter ⚠
- p.Ser356Leu Single submitter ⚠
- p.Ser635Tyr Single submitter ⚠
- p.Ser676Pro Single submitter ⚠
- p.Ser708Leu Single submitter ⚠
- p.Ser713Gly Single submitter ⚠
- p.Thr278Met Single submitter ⚠
- p.Thr311Ala Single submitter ⚠
- p.Thr36Met Single submitter ⚠
- p.Thr723Ile Single submitter ⚠
- p.Thr756Met Single submitter ⚠
- p.Tyr404Phe Single submitter ⚠
- p.Tyr641Phe Single submitter ⚠
- p.Val245Met Single submitter ⚠
- p.Val292Met Single submitter ⚠
- p.Val293Ile Single submitter ⚠
- p.Val321Ile Single submitter ⚠
- p.Val362Phe Single submitter ⚠
- p.Val41Glu Single submitter ⚠
- p.Val59Ala Single submitter ⚠
- p.Val622Ile Single submitter ⚠
- p.Val759Phe Single submitter ⚠
- p.Val776Gly Single submitter ⚠
- p.Val824Leu Single submitter ⚠