AKAP5 — 64 ClinVar variants
All ClinVar germline AKAP5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
3 Benign · 3 Likely benign · 58 Uncertain significance
Full AKAP5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKAP5 p.Ala121Thr Uncertain significance Single submitter
- AKAP5 p.Ala173Pro Uncertain significance Single submitter
- AKAP5 p.Ala46Ser Uncertain significance Single submitter
- AKAP5 p.Ala56Val Uncertain significance Single submitter
- AKAP5 p.Ala78Ser Uncertain significance Single submitter
- AKAP5 p.Arg138Lys Uncertain significance Single submitter
- AKAP5 p.Arg188Trp Uncertain significance Single submitter
- AKAP5 p.Arg27Lys Uncertain significance Single submitter
- AKAP5 p.Arg76Leu Uncertain significance Single submitter
- AKAP5 p.Arg89Thr Uncertain significance Single submitter
- AKAP5 p.Arg91Met Uncertain significance Single submitter
- AKAP5 p.Asn140His Uncertain significance Single submitter
- AKAP5 p.Asn424Asp Uncertain significance Single submitter
- AKAP5 p.Asp115Asn Uncertain significance Single submitter
- AKAP5 p.Asp217His Uncertain significance Single submitter
- AKAP5 p.Gln166His Uncertain significance Single submitter
- AKAP5 p.Gln166Pro Uncertain significance Single submitter
- AKAP5 p.Gln172Arg Uncertain significance Single submitter
- AKAP5 p.Gln172Lys Uncertain significance Single submitter
- AKAP5 p.Gln258Glu Uncertain significance Single submitter
- AKAP5 p.Glu159Asp Uncertain significance Single submitter
- AKAP5 p.Glu193Asp Uncertain significance Single submitter
- AKAP5 p.Glu381Gln Uncertain significance Single submitter
- AKAP5 p.Gly135Trp Uncertain significance Single submitter
- AKAP5 p.Gly219Arg Uncertain significance Single submitter
- AKAP5 p.Gly226Glu Uncertain significance Single submitter
- AKAP5 p.Gly379Arg Uncertain significance Single submitter
- AKAP5 p.Gly379Ser Uncertain significance Single submitter
- AKAP5 p.Gly67Glu Uncertain significance Single submitter
- AKAP5 p.His220Pro Uncertain significance Single submitter
- AKAP5 p.Ile210Phe Uncertain significance Single submitter
- AKAP5 p.Leu228Val Uncertain significance Single submitter
- AKAP5 p.Leu250Pro Uncertain significance Single submitter
- AKAP5 p.Leu426Ile Uncertain significance Single submitter
- AKAP5 p.Lys16Asn Uncertain significance Single submitter
- AKAP5 p.Lys239Asn Uncertain significance Single submitter
- AKAP5 p.Lys326Gln Uncertain significance Single submitter
- AKAP5 p.Lys354Asn Uncertain significance Single submitter
- AKAP5 p.Lys42Gln Uncertain significance Single submitter
- AKAP5 p.Lys96Gln Uncertain significance Single submitter
- AKAP5 p.Met335Val Uncertain significance Single submitter
- AKAP5 p.Pro107Ser Uncertain significance Single submitter
- AKAP5 p.Pro72Leu Uncertain significance Single submitter
- AKAP5 p.Ser281Asn Uncertain significance Single submitter
- AKAP5 p.Ser296Asn Uncertain significance Single submitter
- AKAP5 p.Thr235Arg Uncertain significance Single submitter
- AKAP5 p.Thr235Met Uncertain significance Single submitter
- AKAP5 p.Val10Ile Uncertain significance Single submitter
- AKAP5 p.Val265Ala Uncertain significance Single submitter
- AKAP5 p.Val371Ile Uncertain significance Single submitter
- AKAP5 p.Val373Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- AKAP5 p.Arg383Thr Uncertain significance Single submitter
- AKAP5 p.Arg76Trp Uncertain significance Single submitter
- AKAP5 p.Leu391Phe Uncertain significance Single submitter
- AKAP5 p.Leu85Pro Uncertain significance Single submitter
- AKAP5 p.Met335Thr Uncertain significance Single submitter
- AKAP5 p.Ser348Arg Uncertain significance Single submitter
All AKAP5 variants
Benign 3
- p.Arg188Gln Multiple submitters
- p.Glu314Lys Multiple submitters
- p.Leu392= Multiple submitters
Likely benign 3
- p.Asn218Asp Single submitter
- p.Ser283Asn Single submitter
- p.Thr297Arg Single submitter
Uncertain significance 58
- p.Ala121Thr Single submitter ⚠
- p.Ala173Pro Single submitter ⚠
- p.Ala46Ser Single submitter ⚠
- p.Ala56Val Single submitter ⚠
- p.Ala78Ser Single submitter ⚠
- p.Arg138Lys Single submitter ⚠
- p.Arg188Trp Single submitter ⚠
- p.Arg27Lys Single submitter ⚠
- p.Arg383Thr Single submitter ⚠
- p.Arg76Leu Single submitter ⚠
- p.Arg76Trp Single submitter ⚠
- p.Arg89Thr Single submitter ⚠
- p.Arg91Met Single submitter ⚠
- p.Asn140His Single submitter ⚠
- p.Asn424Asp Single submitter ⚠
- p.Asp115Asn Single submitter ⚠
- p.Asp217His Single submitter ⚠
- p.Gln166His Single submitter ⚠
- p.Gln166Pro Single submitter ⚠
- p.Gln172Arg Single submitter ⚠
- p.Gln172Lys Single submitter ⚠
- p.Gln258Glu Single submitter ⚠
- p.Glu159Asp Single submitter ⚠
- p.Glu193Asp Single submitter ⚠
- p.Glu381Gln Single submitter ⚠
- p.Gly135Trp Single submitter ⚠
- p.Gly219Arg Single submitter ⚠
- p.Gly226Glu Single submitter ⚠
- p.Gly379Arg Single submitter ⚠
- p.Gly379Ser Single submitter ⚠
- p.Gly67Glu Single submitter ⚠
- p.His220Pro Single submitter ⚠
- p.Ile210Phe Single submitter ⚠
- p.Leu228Val Single submitter ⚠
- p.Leu250Pro Single submitter ⚠
- p.Leu391Phe Single submitter ⚠
- p.Leu426Ile Single submitter ⚠
- p.Leu85Pro Single submitter ⚠
- p.Lys16Asn Single submitter ⚠
- p.Lys239Asn Single submitter ⚠
- p.Lys326Gln Single submitter ⚠
- p.Lys354Asn Single submitter ⚠
- p.Lys42Gln Single submitter ⚠
- p.Lys96Gln Single submitter ⚠
- p.Met335Thr Single submitter ⚠
- p.Met335Val Single submitter ⚠
- p.Pro107Ser Single submitter ⚠
- p.Pro128Leu Single submitter
- p.Pro72Leu Single submitter ⚠
- p.Ser281Asn Single submitter ⚠
- p.Ser296Asn Single submitter ⚠
- p.Ser348Arg Single submitter ⚠
- p.Thr235Arg Single submitter ⚠
- p.Thr235Met Single submitter ⚠
- p.Val10Ile Single submitter ⚠
- p.Val265Ala Single submitter ⚠
- p.Val371Ile Single submitter ⚠
- p.Val373Ile Single submitter ⚠