AKAP1 — 146 ClinVar variants

All ClinVar germline AKAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →

1 Conflicting · 12 Benign · 16 Likely benign · 117 Uncertain significance

Full AKAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 115

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.

AKAP1 p.Gly241Ala Conflicting Single submitter

Predictors lean, ClinVar uncertain 102

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

Predictors split 12

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

All AKAP1 variants

Conflicting classifications of pathogenicity 1

p.Gly241Ala Single submitter ⚠

Benign 12

c.1976-6A>G Multiple submitters
p.Ala218Thr Multiple submitters
p.Gly323Ser Multiple submitters
p.Pro475= Multiple submitters
p.Pro818= Multiple submitters
p.Ser330Gly Multiple submitters
p.Ser388= Multiple submitters
p.Thr850= Multiple submitters
p.Val60Met Multiple submitters
c.2432+7G>A Single submitter
p.Ala720= Single submitter
p.Ser583= Single submitter

Likely benign 16

p.Thr521Ile Multiple submitters
p.Tyr435= Multiple submitters
p.Ala291Thr Single submitter
p.Ala735= Single submitter
p.Ala90Val Single submitter
p.Arg120Gln Single submitter
p.Arg270Ser Single submitter
p.Arg346Gln Single submitter
p.Arg374Cys Single submitter
p.Leu131Val Single submitter
p.Leu548= Single submitter
p.Lys370Arg Single submitter
p.Pro415Ser Single submitter
p.Pro475Leu Single submitter
p.Pro59= Single submitter
p.Thr115Ile Single submitter

Uncertain significance 117

p.316GLDRNEE[1] Single submitter breast ductal adenocarcinoma
p.Ala134Ser Single submitter ⚠
p.Ala134Thr Single submitter ⚠
p.Ala187Ser Single submitter ⚠
p.Ala187Thr Single submitter ⚠
p.Ala208Thr Single submitter ⚠
p.Ala264Pro Single submitter ⚠
p.Ala275Asp Single submitter ⚠
p.Ala284Val Single submitter ⚠
p.Ala287Thr Single submitter ⚠
p.Ala293Thr Single submitter ⚠
p.Ala348Asp Single submitter ⚠
p.Ala406Asp Single submitter ⚠
p.Ala43Thr Single submitter ⚠
p.Ala557Ser Single submitter ⚠
p.Ala692Val Single submitter ⚠
p.Ala735Val Single submitter ⚠
p.Ala842Val Single submitter ⚠
p.Ala844Gly Single submitter ⚠
p.Arg103Gln Single submitter ⚠
p.Arg124Leu Single submitter ⚠
p.Arg195Trp Single submitter ⚠
p.Arg28Ser Single submitter ⚠
p.Arg477Gln Single submitter ⚠
p.Arg477Trp Single submitter ⚠
p.Arg6Cys Single submitter ⚠
p.Arg737Cys Single submitter ⚠
p.Arg885Gln Single submitter ⚠
p.Arg885Trp Single submitter ⚠
p.Asn884His Single submitter ⚠
p.Asp207Gly Single submitter ⚠
p.Asp244Gly Single submitter ⚠
p.Asp283Asn Single submitter ⚠
p.Asp283Gly Single submitter ⚠
p.Asp332Tyr Single submitter ⚠
p.Asp493Glu Single submitter ⚠
p.Asp568Gly Single submitter ⚠
p.Asp574Val Single submitter
p.Asp606Asn Single submitter ⚠
p.Asp843Gly Single submitter ⚠
p.Gln354Glu Single submitter ⚠
p.Gln496Arg Single submitter ⚠
p.Glu558Asp Single submitter ⚠
p.Glu788Lys Single submitter ⚠
p.Gly200Asp Single submitter ⚠
p.Gly246Arg Single submitter ⚠
p.Gly302Ala Single submitter ⚠
p.Gly337Ser Single submitter ⚠
p.Gly383Arg Single submitter ⚠
p.Gly572Asp Single submitter ⚠
p.Gly751Val Single submitter ⚠
p.Gly798Arg Single submitter ⚠
p.His276Arg Single submitter ⚠
p.His276Gln Single submitter ⚠
p.His457Arg Single submitter ⚠
p.Ile641Phe Single submitter ⚠
p.Ile883Leu Single submitter ⚠
p.Leu239Ser Single submitter ⚠
p.Leu279Pro Single submitter ⚠
p.Leu587Phe Single submitter ⚠
p.Leu745Phe Single submitter ⚠
p.Leu95Phe Single submitter ⚠
p.Lys266Asn Single submitter ⚠
p.Lys29Glu Single submitter ⚠
p.Lys55Arg Single submitter ⚠
p.Lys673Arg Single submitter ⚠
p.Lys800Asn Single submitter ⚠
p.Met846Val Single submitter ⚠
p.Pro10Ser Single submitter ⚠
p.Pro121Leu Single submitter ⚠
p.Pro175Leu Single submitter ⚠
p.Pro414Arg Single submitter ⚠
p.Pro414Leu Single submitter ⚠
p.Pro420Leu Single submitter ⚠
p.Pro430Gln Single submitter ⚠
p.Pro431Ser Single submitter ⚠
p.Pro534Leu Single submitter ⚠
p.Pro686Ser Single submitter ⚠
p.Pro72Arg Single submitter ⚠
p.Pro818Leu Single submitter ⚠
p.Ser108Leu Single submitter ⚠
p.Ser108Trp Single submitter ⚠
p.Ser128Gly Single submitter ⚠
p.Ser142Leu Single submitter ⚠
p.Ser192Tyr Single submitter ⚠
p.Ser248Asn Single submitter ⚠
p.Ser309Arg Single submitter ⚠
p.Ser34Asn Single submitter ⚠
p.Ser495Gly Single submitter ⚠
p.Ser495Ile Single submitter ⚠
p.Ser586Arg Single submitter ⚠
p.Ser69Tyr Single submitter ⚠
p.Ser863Asn Single submitter ⚠
p.Ser886Phe Single submitter ⚠
p.Thr136Ile Single submitter ⚠
p.Thr136Lys Single submitter ⚠
p.Thr360Ser Single submitter ⚠
p.Thr366Ile Single submitter ⚠
p.Thr468Ile Single submitter ⚠
p.Thr489Ile Single submitter ⚠
p.Thr699Ile Single submitter ⚠
p.Thr850Met Single submitter
p.Tyr435Ser Single submitter ⚠
p.Val155Ile Single submitter ⚠
p.Val184Ile Single submitter ⚠
p.Val263Leu Single submitter ⚠
p.Val33Gly Single submitter ⚠
p.Val488Ile Single submitter ⚠
p.Val547Leu Single submitter ⚠
p.Val715Phe Single submitter ⚠
p.Val725Met Single submitter ⚠
p.Val74Ile Single submitter ⚠
p.Val794Met Single submitter ⚠
p.Val802Leu Single submitter ⚠
p.Val859Ala Single submitter ⚠
p.Val896Ala Single submitter ⚠
p.Lys80Arg No assertion criteria prostate cancer ⚠