AKAP14 — 23 ClinVar variants
All ClinVar germline AKAP14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
1 Benign · 5 Likely benign · 17 Uncertain significance
Full AKAP14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKAP14 p.Ala133Val Uncertain significance Single submitter
- AKAP14 p.Ala149Thr Uncertain significance Single submitter
- AKAP14 p.Arg170His Uncertain significance Single submitter
- AKAP14 p.Arg196Ser Uncertain significance Single submitter
- AKAP14 p.Asp106Glu Uncertain significance Single submitter
- AKAP14 p.Asp46His Uncertain significance Single submitter
- AKAP14 p.Glu33Lys Uncertain significance Single submitter
- AKAP14 p.Gly71Ser Uncertain significance Single submitter
- AKAP14 p.Leu43Val Uncertain significance Single submitter
- AKAP14 p.Pro147Leu Uncertain significance Single submitter
- AKAP14 p.Pro25Leu Uncertain significance Single submitter
- AKAP14 p.Ser132Phe Uncertain significance Single submitter
- AKAP14 p.Ser142Ala Uncertain significance Single submitter
- AKAP14 p.Thr135Asn Uncertain significance Single submitter
- AKAP14 p.Trp67Arg Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All AKAP14 variants
Benign 1
- c.442-7T>G No assertion criteria AKAP14-related disorder
Likely benign 5
- p.Arg130Gln Single submitter
- p.Arg170Cys Single submitter
- p.Arg196Cys Single submitter
- p.His118Arg Single submitter
- p.Ser87Leu Single submitter
Uncertain significance 17
- p.Ala133Val Single submitter ⚠
- p.Ala149Thr Single submitter ⚠
- p.Arg170His Single submitter ⚠
- p.Arg196Ser Single submitter ⚠
- p.Asp106Glu Single submitter ⚠
- p.Asp46His Single submitter ⚠
- p.Glu33Lys Single submitter ⚠
- p.Gly71Ser Single submitter ⚠
- p.Leu43Val Single submitter ⚠
- p.Phe171Ser Single submitter ⚠
- p.Pro147Leu Single submitter ⚠
- p.Pro150Leu Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Ser132Phe Single submitter ⚠
- p.Ser142Ala Single submitter ⚠
- p.Thr135Asn Single submitter ⚠
- p.Trp67Arg Single submitter ⚠