ANKRD28 — 153 ClinVar variants

All ClinVar germline ANKRD28 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →

11 Likely benign · 142 Uncertain significance

Full ANKRD28 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 128

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 102

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

Predictors split 26

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

All ANKRD28 variants

Likely benign 11

p.Thr814Met Multiple submitters
p.Ala327= Single submitter
p.Asp514= Single submitter
p.Glu867= Single submitter
p.His76= Single submitter
p.Leu632= Single submitter
p.Leu689= Single submitter
p.Leu869= Single submitter
p.Met775Val Single submitter
p.Ser660= Single submitter
p.Tyr990= Single submitter

Uncertain significance 142

c.2562-2A>C Single submitter
p.Ala1029Val Single submitter ⚠
p.Ala1044Ser Single submitter ⚠
p.Ala119Thr Single submitter ⚠
p.Ala146Gly Single submitter ⚠
p.Ala244Val Single submitter ⚠
p.Ala276Thr Single submitter ⚠
p.Ala2Glu Single submitter ⚠
p.Ala360Pro Single submitter ⚠
p.Ala376Thr Single submitter ⚠
p.Ala409Ser Single submitter ⚠
p.Ala475Thr Single submitter ⚠
p.Ala579Gly Single submitter ⚠
p.Ala719Thr Single submitter ⚠
p.Ala767Gly Single submitter ⚠
p.Ala848Thr Single submitter ⚠
p.Ala909Gly Single submitter ⚠
p.Ala954Thr Single submitter ⚠
p.Ala955Ser Single submitter ⚠
p.Arg1032His Single submitter ⚠
p.Arg168Gln Single submitter ⚠
p.Arg351Gln Single submitter ⚠
p.Arg378Gln Single submitter ⚠
p.Arg378Trp Single submitter
p.Arg500Thr Single submitter ⚠
p.Arg531Cys Single submitter ⚠
p.Arg531His Single submitter ⚠
p.Arg531Leu Single submitter
p.Arg548Cys Single submitter ⚠
p.Arg55Gln Single submitter ⚠
p.Arg664Gln Single submitter ⚠
p.Arg72Gln Single submitter ⚠
p.Arg745Gln Single submitter ⚠
p.Arg750Gln Single submitter
p.Arg946Gly Single submitter ⚠
p.Arg946Lys Single submitter ⚠
p.Asn1035Ser Single submitter ⚠
p.Asn1059His Single submitter ⚠
p.Asn1059Ser Single submitter ⚠
p.Asn131Ser Single submitter ⚠
p.Asn195His Single submitter
p.Asn195Ser Single submitter ⚠
p.Asn279Ser Single submitter ⚠
p.Asn325Ile Single submitter ⚠
p.Asn693His Single submitter ⚠
p.Asn796Ser Single submitter ⚠
p.Asn830Ser Single submitter ⚠
p.Asn876Ile Single submitter
p.Asn880Ser Single submitter ⚠
p.Asn896Lys Single submitter ⚠
p.Asn950Ser Single submitter ⚠
p.Asp261Asn Single submitter ⚠
p.Asp363Asn Single submitter ⚠
p.Asp366Tyr Single submitter ⚠
p.Asp394Asn Single submitter ⚠
p.Asp416Val Single submitter ⚠
p.Asp429Gly Single submitter ⚠
p.Asp630Glu Single submitter
p.Asp68Val Single submitter ⚠
p.Asp783Gly Single submitter ⚠
p.Asp850Asn Single submitter ⚠
p.Cys152Tyr Single submitter ⚠
p.Cys231Arg Single submitter ⚠
p.Cys731Gly Single submitter ⚠
p.Cys742Gly Single submitter ⚠
p.Gln121Arg Single submitter ⚠
p.Gln482Arg Single submitter ⚠
p.Gln737His Single submitter ⚠
p.Gln878Pro Single submitter ⚠
p.Gln9Arg Single submitter ⚠
p.Glu382Lys Single submitter ⚠
p.Glu449Ala Single submitter ⚠
p.Glu809Lys Single submitter ⚠
p.Gly280Arg Single submitter ⚠
p.Gly302Glu Single submitter ⚠
p.Gly49Arg Single submitter ⚠
p.Gly529Glu Single submitter ⚠
p.Gly816Glu Single submitter ⚠
p.Gly853Arg Single submitter ⚠
p.Gly979Glu Single submitter ⚠
p.His590Arg Single submitter
p.His728Leu Single submitter
p.His738Gln Single submitter ⚠
p.Ile1047Thr Single submitter ⚠
p.Ile1061Phe Single submitter ⚠
p.Ile289Leu Single submitter ⚠
p.Ile289Thr Single submitter ⚠
p.Ile294Leu Single submitter ⚠
p.Ile355Val Single submitter ⚠
p.Ile46Val Single submitter ⚠
p.Ile530Phe Single submitter
p.Ile633Val Single submitter ⚠
p.Ile762Thr Single submitter ⚠
p.Ile845Met Single submitter ⚠
p.Ile91Leu Single submitter ⚠
p.Ile91Val Single submitter ⚠
p.Leu1045Ser Single submitter ⚠
p.Leu123Val Single submitter ⚠
p.Leu156Phe Single submitter ⚠
p.Leu384Pro Single submitter ⚠
p.Leu455Val Single submitter ⚠
p.Leu553Pro Single submitter ⚠
p.Leu640Val Single submitter ⚠
p.Lys5Glu Single submitter ⚠
p.Lys887Glu Single submitter ⚠
p.Met262Val Single submitter ⚠
p.Met970Val Single submitter ⚠
p.Phe467Leu Single submitter ⚠
p.Pro265Ser Single submitter ⚠
p.Pro305Ser Single submitter ⚠
p.Ser1020Thr Single submitter ⚠
p.Ser1080Cys Single submitter ⚠
p.Ser191Pro Single submitter ⚠
p.Ser224Leu Single submitter ⚠
p.Ser250Asn Single submitter ⚠
p.Ser415Leu Single submitter
p.Ser424Leu Single submitter ⚠
p.Ser542Ala Single submitter ⚠
p.Ser573Thr Single submitter ⚠
p.Ser908Arg Single submitter ⚠
p.Ser908Thr Single submitter ⚠
p.Ser910Arg Single submitter ⚠
p.Ser919Arg Single submitter ⚠
p.Thr1039Ala Single submitter ⚠
p.Thr387Ala Single submitter ⚠
p.Thr390Ile Single submitter
p.Thr457Ile Single submitter ⚠
p.Thr566Ala Single submitter ⚠
p.Thr781Ala Single submitter ⚠
p.Thr788Met Single submitter ⚠
p.Thr855Ile Single submitter ⚠
p.Trp209Cys Single submitter ⚠
p.Tyr268Cys Single submitter ⚠
p.Tyr507Phe Single submitter ⚠
p.Tyr520Cys Single submitter ⚠
p.Tyr536Cys Single submitter ⚠
p.Tyr589Cys Single submitter ⚠
p.Val229Ala Single submitter
p.Val494Leu Single submitter ⚠
p.Val600Leu Single submitter ⚠
p.Val676Ala Single submitter
p.Val802Ile Single submitter ⚠