AIM2 — 47 ClinVar variants
All ClinVar germline AIM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Conflicting · 5 Benign · 5 Likely benign · 36 Uncertain significance
Full AIM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AIM2 p.Ala112Ser Uncertain significance Single submitter
- AIM2 p.Arg115Gly Uncertain significance Single submitter
- AIM2 p.Arg226Leu Uncertain significance Single submitter
- AIM2 p.Arg24Ser Uncertain significance Single submitter
- AIM2 p.Arg67His Uncertain significance Single submitter
- AIM2 p.Asn194Ser Uncertain significance Single submitter
- AIM2 p.Glu147Lys Uncertain significance Single submitter
- AIM2 p.Glu299Lys Uncertain significance Single submitter
- AIM2 p.Gly295Arg Uncertain significance Single submitter
- AIM2 p.His130Asn Uncertain significance Single submitter
- AIM2 p.Ile46Val Uncertain significance Single submitter
- AIM2 p.Lys335Gln Uncertain significance Single submitter
- AIM2 p.Met302Val Uncertain significance Single submitter
- AIM2 p.Pro129Leu Uncertain significance Single submitter
- AIM2 p.Thr18Ser Uncertain significance Single submitter
- AIM2 p.Thr254Ala Uncertain significance Single submitter
- AIM2 p.Thr262Arg Uncertain significance Single submitter
- AIM2 p.Val330Phe Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- AIM2 p.Ala230Val Uncertain significance Single submitter
- AIM2 p.Arg205Thr Uncertain significance Single submitter
- AIM2 p.Arg211Ile Uncertain significance Single submitter
- AIM2 p.Arg214Trp Likely benign Single submitter
- AIM2 p.Arg226Cys Likely benign Single submitter
- AIM2 p.Arg226His Uncertain significance Single submitter
- AIM2 p.Arg297Gly Likely benign Single submitter
- AIM2 p.Arg311Gln Uncertain significance Single submitter
- AIM2 p.Arg311Gly Uncertain significance Single submitter
- AIM2 p.Asn55Asp Uncertain significance Single submitter
- AIM2 p.Asp117Tyr Uncertain significance Single submitter
- AIM2 p.Glu184Gly Uncertain significance Single submitter
- AIM2 p.His178Arg Uncertain significance Single submitter
- AIM2 p.Ile8Met Uncertain significance Single submitter
- AIM2 p.Leu29Phe Uncertain significance Single submitter
- AIM2 p.Leu317Gln Uncertain significance Single submitter
- AIM2 p.Lys309Glu Uncertain significance Single submitter
- AIM2 p.Thr12Arg Uncertain significance Single submitter
- AIM2 p.Thr183Ile Uncertain significance Single submitter
- AIM2 p.Thr18Ala Uncertain significance Single submitter
- AIM2 p.Thr65Ser Uncertain significance Single submitter
All AIM2 variants
Conflicting classifications of pathogenicity 1
- p.Ter344Glu Single submitter hereditary breast ovarian cancer syndrome
Benign 5
- c.396+6A>T Multiple submitters
- p.Glu83= Multiple submitters
- p.Pro250= Multiple submitters
- p.Asn265= Single submitter
- p.Thr343fs No assertion criteria AIM2-related disorder
Likely benign 5
- p.Arg214Gln Single submitter
- p.Arg214Trp Single submitter ⚠
- p.Arg226Cys Single submitter ⚠
- p.Arg297Gly Single submitter ⚠
- p.Glu231Lys Single submitter
Uncertain significance 36
- p.Ala112Ser Single submitter ⚠
- p.Ala230Val Single submitter ⚠
- p.Arg115Gly Single submitter ⚠
- p.Arg205Thr Single submitter ⚠
- p.Arg211Ile Single submitter ⚠
- p.Arg226His Single submitter ⚠
- p.Arg226Leu Single submitter ⚠
- p.Arg24Ser Single submitter ⚠
- p.Arg311Gln Single submitter ⚠
- p.Arg311Gly Single submitter ⚠
- p.Arg67His Single submitter ⚠
- p.Asn194Ser Single submitter ⚠
- p.Asn55Asp Single submitter ⚠
- p.Asp117Tyr Single submitter ⚠
- p.Glu147Lys Single submitter ⚠
- p.Glu184Gly Single submitter ⚠
- p.Glu299Lys Single submitter ⚠
- p.Gly295Arg Single submitter ⚠
- p.His130Asn Single submitter ⚠
- p.His178Arg Single submitter ⚠
- p.Ile46Val Single submitter ⚠
- p.Ile8Met Single submitter ⚠
- p.Leu29Phe Single submitter ⚠
- p.Leu317Gln Single submitter ⚠
- p.Lys309Glu Single submitter ⚠
- p.Lys335Gln Single submitter ⚠
- p.Met302Val Single submitter ⚠
- p.Pro129Leu Single submitter ⚠
- p.Thr12Arg Single submitter ⚠
- p.Thr183Ile Single submitter ⚠
- p.Thr18Ala Single submitter ⚠
- p.Thr18Ser Single submitter ⚠
- p.Thr254Ala Single submitter ⚠
- p.Thr262Arg Single submitter ⚠
- p.Thr65Ser Single submitter ⚠
- p.Val330Phe Single submitter ⚠