ANKRD52 — 92 ClinVar variants

All ClinVar germline ANKRD52 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

2 Benign · 1 Likely benign · 89 Uncertain significance

Full ANKRD52 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

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 47

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

Predictors split 42

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

All ANKRD52 variants

Benign 2

c.694-3C>T Multiple submitters
p.Asn466= Multiple submitters

Likely benign 1

p.Thr620= Single submitter

Uncertain significance 89

p.Ala102Ser Single submitter ⚠
p.Ala1041Val Single submitter ⚠
p.Ala1043Thr Single submitter ⚠
p.Ala1051Thr Single submitter ⚠
p.Ala1067Thr Single submitter ⚠
p.Ala215Val Single submitter ⚠
p.Ala230Glu Single submitter ⚠
p.Ala230Val Single submitter ⚠
p.Ala246Thr Single submitter ⚠
p.Ala496Thr Single submitter ⚠
p.Ala498Thr Single submitter ⚠
p.Ala49Val Single submitter ⚠
p.Ala553Ser Single submitter ⚠
p.Ala678Val Single submitter ⚠
p.Ala886Thr Single submitter ⚠
p.Arg103Gly Single submitter ⚠
p.Arg348Gln Single submitter ⚠
p.Arg452Ser Single submitter ⚠
p.Arg525Cys Single submitter ⚠
p.Arg525Leu Single submitter ⚠
p.Arg548Gly Single submitter ⚠
p.Arg619Gln Single submitter ⚠
p.Arg628Cys Single submitter ⚠
p.Arg649His Single submitter ⚠
p.Arg651His Single submitter ⚠
p.Arg720Gln Single submitter ⚠
p.Arg720Trp Single submitter ⚠
p.Arg722His Single submitter ⚠
p.Arg727Cys Single submitter ⚠
p.Arg755Cys Single submitter ⚠
p.Arg755His Single submitter ⚠
p.Arg771Trp Single submitter ⚠
p.Arg854Gln Single submitter ⚠
p.Arg875Trp Single submitter ⚠
p.Arg892His Single submitter ⚠
p.Arg970Gln Single submitter ⚠
p.Asn1004His Single submitter ⚠
p.Asn1004Ser Single submitter ⚠
p.Asn35Lys Single submitter ⚠
p.Asn35Ser Single submitter ⚠
p.Asn595Ser Single submitter ⚠
p.Asn86Lys Single submitter ⚠
p.Asn955Ser Single submitter ⚠
p.Asp514Tyr Single submitter ⚠
p.Asp579Val Single submitter ⚠
p.Asp735Asn Single submitter ⚠
p.Asp8His Single submitter ⚠
p.Gln396Arg Single submitter ⚠
p.Glu220Lys Single submitter ⚠
p.Glu234Gly Single submitter ⚠
p.Glu23Val Single submitter ⚠
p.Glu352Lys Single submitter ⚠
p.Gly1050Ser Single submitter ⚠
p.Gly217Ala Single submitter ⚠
p.Gly844Glu Single submitter ⚠
p.His803Arg Single submitter ⚠
p.His813Asn Single submitter ⚠
p.His813Tyr Single submitter ⚠
p.Ile256Thr Single submitter ⚠
p.Ile332Thr Single submitter ⚠
p.Ile3Asn Single submitter ⚠
p.Leu611Val Single submitter ⚠
p.Leu725Val Single submitter ⚠
p.Leu862Phe Single submitter ⚠
p.Leu921Ser Single submitter ⚠
p.Lys1024Asn Single submitter ⚠
p.Lys647Arg Single submitter ⚠
p.Met572Val Single submitter ⚠
p.Met62Leu Single submitter ⚠
p.Met896Ile Single submitter ⚠
p.Pro1003Arg Single submitter ⚠
p.Pro110Ala Single submitter ⚠
p.Pro507Leu Single submitter ⚠
p.Pro543Ser Single submitter ⚠
p.Pro782Ser Single submitter ⚠
p.Ser1033Gly Single submitter ⚠
p.Ser150Arg Single submitter ⚠
p.Ser405Ile Single submitter ⚠
p.Ser674Arg Single submitter ⚠
p.Thr274Met Single submitter ⚠
p.Thr890Asn Single submitter ⚠
p.Thr927Met Single submitter ⚠
p.Tyr1060Phe Single submitter ⚠
p.Val135Met Single submitter ⚠
p.Val193Leu Single submitter ⚠
p.Val222Ala Single submitter ⚠
p.Val281Gly Single submitter ⚠
p.Val54Ile Single submitter ⚠
p.Val554Met Single submitter ⚠