ANKRD30A — 188 ClinVar variants

All ClinVar germline ANKRD30A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 174 flagged for review →

1 Benign · 18 Likely benign · 169 Uncertain significance

Full ANKRD30A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 174

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 77

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

Predictors split 97

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

All ANKRD30A variants

Benign 1

p.Thr824Ala Single submitter

Likely benign 18

c.1393+8G>A Single submitter
p.Ala1144Asp Single submitter
p.Ala705= Single submitter
p.Asp1187Asn Single submitter
p.Asp668Val Single submitter ⚠
p.Asp843= Single submitter
p.Asp936Val Single submitter ⚠
p.Gly1271Arg Single submitter
p.His1199Arg Single submitter
p.His168Arg Single submitter
p.Ile618Val Single submitter ⚠
p.Ile670Met Single submitter ⚠
p.Ile829Thr Single submitter ⚠
p.Lys518Glu Single submitter
p.Lys593Thr Single submitter ⚠
p.Ser1082Thr Single submitter
p.Ser1241Asn Single submitter
p.Val1206Leu Single submitter

Uncertain significance 169

p.Ala1006Val Single submitter ⚠
p.Ala1119Gly Single submitter ⚠
p.Ala120Val Single submitter ⚠
p.Ala1226Glu Single submitter ⚠
p.Ala122Val Single submitter ⚠
p.Ala1273Gly Single submitter ⚠
p.Ala1298Ser Single submitter ⚠
p.Ala146Thr Single submitter ⚠
p.Ala212Ser Single submitter ⚠
p.Ala233Asp Single submitter ⚠
p.Ala245Gly Single submitter ⚠
p.Ala284Val Single submitter ⚠
p.Ala307Glu Single submitter ⚠
p.Ala384Ser Single submitter ⚠
p.Ala410Thr Single submitter ⚠
p.Ala418Thr Single submitter ⚠
p.Ala656Pro Single submitter ⚠
p.Ala894Thr Single submitter ⚠
p.Ala942Gly Single submitter ⚠
p.Ala974Glu Single submitter ⚠
p.Arg485Leu Single submitter ⚠
p.Arg929Cys Single submitter ⚠
p.Arg929His Single submitter ⚠
p.Asn510Lys Single submitter ⚠
p.Asn603Asp Single submitter ⚠
p.Asn603Ile Single submitter ⚠
p.Asn661Thr Single submitter ⚠
p.Asn899Asp Single submitter ⚠
p.Asp100Gly Single submitter ⚠
p.Asp1187Gly Single submitter ⚠
p.Asp1287Glu Single submitter ⚠
p.Asp1287Tyr Single submitter ⚠
p.Asp230Gly Single submitter ⚠
p.Asp483Asn Single submitter ⚠
p.Asp94Gly Single submitter ⚠
p.Gln1022Glu Single submitter ⚠
p.Gln1058Lys Single submitter ⚠
p.Gln1071His Single submitter ⚠
p.Gln1147His Single submitter ⚠
p.Gln1207Lys Single submitter ⚠
p.Gln1285Lys Single submitter ⚠
p.Gln1288Arg Single submitter ⚠
p.Gln1321Arg Single submitter ⚠
p.Gln1327Arg Single submitter ⚠
p.Gln1362Glu Single submitter ⚠
p.Gln186Lys Single submitter ⚠
p.Gln474Arg Single submitter ⚠
p.Gln558Glu Single submitter ⚠
p.Gln69His Single submitter ⚠
p.Gln69Lys Single submitter ⚠
p.Glu1051Asp Single submitter ⚠
p.Glu1057Lys Single submitter ⚠
p.Glu1062Lys Single submitter ⚠
p.Glu1117Gly Single submitter ⚠
p.Glu1154Lys Single submitter ⚠
p.Glu1282Lys Single submitter ⚠
p.Glu1314fs Single submitter hereditary breast carcinoma
p.Glu219Lys Single submitter ⚠
p.Glu370Val Single submitter ⚠
p.Glu500Gln Single submitter ⚠
p.Glu555Asp Single submitter ⚠
p.Glu643Lys Single submitter ⚠
p.Glu875Gly Single submitter ⚠
p.Glu930Asp Single submitter ⚠
p.Gly139Ser Single submitter ⚠
p.Gly606Ser Single submitter ⚠
p.His1102Leu Single submitter ⚠
p.His1250Arg Single submitter ⚠
p.His1341Arg Single submitter ⚠
p.His1355Asp Single submitter ⚠
p.His1379Tyr Single submitter ⚠
p.His825Arg Single submitter ⚠
p.His944Arg Single submitter ⚠
p.His969Arg Single submitter ⚠
p.His981Gln Single submitter ⚠
p.Ile1048Met Single submitter ⚠
p.Ile1172Leu Single submitter ⚠
p.Ile180Val Single submitter ⚠
p.Ile236Met Single submitter ⚠
p.Ile498Met Single submitter ⚠
p.Ile502Met Single submitter ⚠
p.Ile509Val Single submitter ⚠
p.Ile670Thr Single submitter ⚠
p.Ile670Val Single submitter ⚠
p.Ile713Met Single submitter ⚠
p.Ile884Asn Single submitter ⚠
p.Leu1202Met Single submitter ⚠
p.Leu1319Val Single submitter ⚠
p.Leu173Phe Single submitter ⚠
p.Leu176Val Single submitter ⚠
p.Leu264Ile Single submitter ⚠
p.Leu671Arg Single submitter ⚠
p.Leu846Met Single submitter ⚠
p.Leu846Val Single submitter ⚠
p.Leu99His Single submitter ⚠
p.Lys1001Thr Single submitter ⚠
p.Lys1007Asn Single submitter ⚠
p.Lys1061Glu Single submitter ⚠
p.Lys1259Thr Single submitter ⚠
p.Lys1261Gln Single submitter ⚠
p.Lys1261Glu Single submitter ⚠
p.Lys1264Thr Single submitter ⚠
p.Lys1296Asn Single submitter ⚠
p.Lys1329Arg Single submitter ⚠
p.Lys1347Gln Single submitter ⚠
p.Lys387Arg Single submitter ⚠
p.Lys416Arg Single submitter ⚠
p.Lys524Glu Single submitter ⚠
p.Lys678Glu Single submitter ⚠
p.Lys697Arg Single submitter ⚠
p.Lys697Thr Single submitter ⚠
p.Lys847Met Single submitter ⚠
p.Met1113Val Single submitter ⚠
p.Met1301Val Single submitter ⚠
p.Met210Ile Single submitter ⚠
p.Met551Val Single submitter ⚠
p.Met628Val Single submitter ⚠
p.Met992Ile Single submitter ⚠
p.Phe232Leu Single submitter ⚠
p.Pro303Ser Single submitter ⚠
p.Pro520Leu Single submitter ⚠
p.Pro554Ala Single submitter ⚠
p.Pro635Thr Single submitter ⚠
p.Pro644Thr Single submitter ⚠
p.Pro821Ser Single submitter ⚠
p.Pro857Leu Single submitter ⚠
p.Pro877Leu Single submitter ⚠
p.Pro940Ser Single submitter ⚠
p.Ser1082Arg Single submitter ⚠
p.Ser1091Phe Single submitter ⚠
p.Ser1197Leu Single submitter ⚠
p.Ser1215Thr Single submitter ⚠
p.Ser153Pro Single submitter ⚠
p.Ser277Ala Single submitter ⚠
p.Ser277Pro Single submitter ⚠
p.Ser486Thr Single submitter ⚠
p.Ser521Cys Single submitter ⚠
p.Ser568Thr Single submitter ⚠
p.Ser640Ala Single submitter ⚠
p.Ser889Phe Single submitter ⚠
p.Ser958Ala Single submitter ⚠
p.Ser960Asn Single submitter ⚠
p.Thr1120Ala Single submitter ⚠
p.Thr302Ile Single submitter ⚠
p.Thr316Met Single submitter ⚠
p.Thr362Met Single submitter ⚠
p.Thr630Asn Single submitter ⚠
p.Thr646Ile Single submitter ⚠
p.Thr687Ser Single submitter ⚠
p.Thr986Arg Single submitter ⚠
p.Thr986Lys Single submitter ⚠
p.Trp408Arg Single submitter ⚠
p.Trp685Ser Single submitter ⚠
p.Trp79Cys Single submitter ⚠
p.Trp923Cys Single submitter ⚠
p.Tyr1387Asp Single submitter ⚠
p.Tyr145Phe Single submitter ⚠
p.Val1206Ala Single submitter ⚠
p.Val147Ile Single submitter ⚠
p.Val164Ala Single submitter ⚠
p.Val167Met Single submitter ⚠
p.Val310Leu Single submitter ⚠
p.Val310Met Single submitter ⚠
p.Val431Leu Single submitter ⚠
p.Val431Met Single submitter ⚠
p.Val813Leu Single submitter ⚠
p.Val89Ile Single submitter ⚠
p.Val918Ala Single submitter ⚠
p.Val939Ala Single submitter ⚠