ABTB3 — 158 ClinVar variants

All ClinVar germline ABTB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 135 flagged for review →

6 Likely benign · 152 Uncertain significance

Full ABTB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 135

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 94

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

Predictors split 41

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

All ABTB3 variants

Likely benign 6

p.Ala119Val Single submitter
p.Ala696= Single submitter
p.Arg947= Single submitter
p.Lys756= Single submitter
p.Pro114= Single submitter
p.Tyr893= Single submitter

Uncertain significance 152

c.1135+525T>A Single submitter
p.Ala1019Val Single submitter
p.Ala119Glu Single submitter ⚠
p.Ala130Thr Single submitter ⚠
p.Ala147Ser Single submitter ⚠
p.Ala147Val Single submitter ⚠
p.Ala176Glu Single submitter ⚠
p.Ala176Ser Single submitter ⚠
p.Ala180Thr Single submitter ⚠
p.Ala181Val Single submitter ⚠
p.Ala182Glu Single submitter ⚠
p.Ala185Thr Single submitter ⚠
p.Ala205Thr Single submitter ⚠
p.Ala281Pro Single submitter ⚠
p.Ala290Thr Single submitter ⚠
p.Ala320Val Single submitter ⚠
p.Ala328Val Single submitter ⚠
p.Ala329Gly Single submitter ⚠
p.Ala343Gly Single submitter ⚠
p.Ala555Val Single submitter ⚠
p.Ala697Thr Single submitter ⚠
p.Ala803Thr Single submitter
p.Ala833Thr Single submitter ⚠
p.Arg1012Gln Single submitter ⚠
p.Arg112Pro Single submitter ⚠
p.Arg153Pro Single submitter ⚠
p.Arg206Gly Single submitter ⚠
p.Arg215Cys Single submitter
p.Arg246Trp Single submitter ⚠
p.Arg434His Single submitter ⚠
p.Arg519Ser Single submitter ⚠
p.Arg520His Single submitter ⚠
p.Arg534Gly Single submitter ⚠
p.Arg557Gln Single submitter
p.Arg575Gln Single submitter ⚠
p.Arg575Trp Single submitter ⚠
p.Arg649His Single submitter
p.Arg710His Single submitter ⚠
p.Arg748His Single submitter
p.Arg786Cys Single submitter
p.Arg786His Single submitter ⚠
p.Arg831Trp Single submitter
p.Arg838Leu Single submitter ⚠
p.Arg89Pro Single submitter ⚠
p.Asn1032Asp Single submitter ⚠
p.Asn33Ser Single submitter ⚠
p.Asn485Ser Single submitter ⚠
p.Asp1025Asn Single submitter ⚠
p.Asp392Asn Single submitter ⚠
p.Asp551Asn Single submitter ⚠
p.Asp809Asn Single submitter ⚠
p.Asp813Gly Single submitter ⚠
p.Asp93Glu Single submitter ⚠
p.Cys313Ser Single submitter ⚠
p.Cys471Phe Single submitter ⚠
p.Cys542Ter Single submitter
p.Cys554Trp Single submitter ⚠
p.Gln366His Single submitter ⚠
p.Gln693His Single submitter ⚠
p.Glu1041Asp Single submitter ⚠
p.Glu1047Lys Single submitter ⚠
p.Glu647Lys Single submitter ⚠
p.Glu994Ala Single submitter ⚠
p.Glu994Asp Single submitter ⚠
p.Gly1038Arg Single submitter ⚠
p.Gly122Asp Single submitter ⚠
p.Gly263Cys Single submitter ⚠
p.Gly267Ala Single submitter ⚠
p.Gly267Asp Single submitter ⚠
p.Gly267Val Single submitter ⚠
p.Gly273Asp Single submitter ⚠
p.Gly309Ala Single submitter ⚠
p.Gly309Arg Single submitter ⚠
p.Gly310Ser Single submitter ⚠
p.Gly400Arg Single submitter ⚠
p.Gly580Ter Single submitter
p.Gly615Arg Single submitter ⚠
p.Gly717Arg Single submitter ⚠
p.Gly865Ala Single submitter ⚠
p.His336Asp Single submitter ⚠
p.His447Asp Single submitter ⚠
p.Ile564Val Single submitter ⚠
p.Ile812Phe Single submitter ⚠
p.Ile963Val Single submitter ⚠
p.Leu124Arg Single submitter ⚠
p.Leu36Ser Single submitter
p.Leu782Ser Single submitter ⚠
p.Leu901Pro Single submitter ⚠
p.Leu917Ile Single submitter ⚠
p.Lys126Glu Single submitter ⚠
p.Lys791Glu Single submitter ⚠
p.Met166Leu Single submitter ⚠
p.Met524Thr Single submitter ⚠
p.Met600Ile Single submitter
p.Met622Leu Single submitter
p.Met719Ile Single submitter ⚠
p.Met977Leu Single submitter ⚠
p.Met996Thr Single submitter ⚠
p.Met996Val Single submitter ⚠
p.Phe1050Tyr Single submitter ⚠
p.Phe870Ser Single submitter ⚠
p.Pro272Ala Single submitter ⚠
p.Pro274Arg Single submitter ⚠
p.Pro291Leu Single submitter ⚠
p.Pro317Leu Single submitter ⚠
p.Pro326Gln Single submitter ⚠
p.Pro403Leu Single submitter ⚠
p.Pro403Ser Single submitter ⚠
p.Pro43Ala Single submitter ⚠
p.Pro43Arg Single submitter ⚠
p.Pro484Ser Single submitter ⚠
p.Pro504Leu Single submitter ⚠
p.Pro53Thr Single submitter ⚠
p.Pro779Leu Single submitter ⚠
p.Pro780Thr Single submitter ⚠
p.Pro781Thr Single submitter ⚠
p.Pro820Arg Single submitter ⚠
p.Pro92Arg Single submitter
p.Pro92Leu Single submitter
p.Pro933Gln Single submitter ⚠
p.Pro933Thr Single submitter ⚠
p.Pro956Leu Single submitter ⚠
p.Ser212Pro Single submitter ⚠
p.Ser275Ile Single submitter ⚠
p.Ser297Arg Single submitter ⚠
p.Ser297Thr Single submitter ⚠
p.Ser308Gly Single submitter ⚠
p.Ser311Asn Single submitter ⚠
p.Ser785Arg Single submitter ⚠
p.Ser882Ile Single submitter ⚠
p.Ser88Leu Single submitter ⚠
p.Ser953Cys Single submitter ⚠
p.Thr238Ile Single submitter ⚠
p.Thr412Asn Single submitter ⚠
p.Thr727Ala Single submitter ⚠
p.Thr777Ala Single submitter ⚠
p.Thr902Lys Single submitter ⚠
p.Tyr468His Single submitter ⚠
p.Tyr687Cys Single submitter
p.Tyr979Cys Single submitter ⚠
p.Val213Leu Single submitter ⚠
p.Val348Ala Single submitter ⚠
p.Val513Glu Single submitter ⚠
p.Val513Met Single submitter ⚠
p.Val644Ile Single submitter ⚠
p.Val665Ile Single submitter ⚠
p.Val676Leu Single submitter ⚠
p.Val819Ile Single submitter ⚠
p.Val887Ile Single submitter ⚠
p.Val925Ile Single submitter ⚠
p.Val968Met Single submitter ⚠
p.Ser50Gly No assertion criteria prostate cancer ⚠