ACER2 — 47 ClinVar variants
All ClinVar germline ACER2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
3 Likely benign · 44 Uncertain significance
Full ACER2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACER2 p.Arg112Lys Uncertain significance Single submitter
- ACER2 p.Asn23Lys Uncertain significance Single submitter
- ACER2 p.Cys51Tyr Uncertain significance Single submitter
- ACER2 p.Gln11His Uncertain significance Single submitter
- ACER2 p.Glu200Lys Uncertain significance Single submitter
- ACER2 p.Glu251Asp Uncertain significance Single submitter
- ACER2 p.Gly182Val Uncertain significance Single submitter
- ACER2 p.His5Asn Uncertain significance Single submitter
- ACER2 p.Ile146Val Uncertain significance Single submitter
- ACER2 p.Ile256Phe Uncertain significance Single submitter
- ACER2 p.Ile30Val Uncertain significance Single submitter
- ACER2 p.Lys126Gln Uncertain significance Single submitter
- ACER2 p.Met102Leu Uncertain significance Single submitter
- ACER2 p.Met50Leu Uncertain significance Single submitter
- ACER2 p.Phe205Leu Uncertain significance Single submitter
- ACER2 p.Phe247Ser Uncertain significance Single submitter
- ACER2 p.Phe33Leu Uncertain significance Single submitter
- ACER2 p.Phe42Val Uncertain significance Single submitter
- ACER2 p.Pro208Leu Uncertain significance Single submitter
- ACER2 p.Pro259Ser Uncertain significance Single submitter
- ACER2 p.Pro46Ser Uncertain significance Single submitter
- ACER2 p.Thr275Met Uncertain significance Single submitter
- ACER2 p.Tyr56Cys Uncertain significance Single submitter
- ACER2 p.Val131Ile Uncertain significance Single submitter
- ACER2 p.Val135Ile Uncertain significance Single submitter
- ACER2 p.Val40Ala Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- ACER2 p.Arg112Ser Uncertain significance Single submitter
- ACER2 p.Arg119Pro Uncertain significance Single submitter
- ACER2 p.Arg122Trp Uncertain significance Single submitter
- ACER2 p.Arg124Gly Uncertain significance Single submitter
- ACER2 p.Arg196Gln Uncertain significance Single submitter
- ACER2 p.Arg196Gly Uncertain significance Single submitter
- ACER2 p.Asn147Ser Uncertain significance Single submitter
- ACER2 p.Leu179Phe Uncertain significance Single submitter
- ACER2 p.Leu70Phe Uncertain significance Single submitter
- ACER2 p.Lys176Asn Uncertain significance Single submitter
- ACER2 p.Pro208Ser Uncertain significance Single submitter
- ACER2 p.Ser181Leu Uncertain significance Single submitter
- ACER2 p.Trp6Cys Uncertain significance Single submitter
- ACER2 p.Tyr223Cys Uncertain significance Single submitter
- ACER2 p.Tyr34Cys Uncertain significance Single submitter
- ACER2 p.Val127Met Uncertain significance Single submitter
- ACER2 p.Val244Ala Uncertain significance Single submitter
- ACER2 p.Val74Gly Uncertain significance Single submitter
All ACER2 variants
Likely benign 3
- p.Asn250Ser Single submitter
- p.Asn267Ser Single submitter
- p.Met172Val Single submitter
Uncertain significance 44
- p.Arg112Lys Single submitter ⚠
- p.Arg112Ser Single submitter ⚠
- p.Arg119Pro Single submitter ⚠
- p.Arg122Trp Single submitter ⚠
- p.Arg124Gly Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
- p.Arg196Gly Single submitter ⚠
- p.Asn147Ser Single submitter ⚠
- p.Asn23Lys Single submitter ⚠
- p.Cys51Tyr Single submitter ⚠
- p.Gln11His Single submitter ⚠
- p.Glu200Lys Single submitter ⚠
- p.Glu251Asp Single submitter ⚠
- p.Gly182Val Single submitter ⚠
- p.His5Asn Single submitter ⚠
- p.Ile146Val Single submitter ⚠
- p.Ile256Phe Single submitter ⚠
- p.Ile30Val Single submitter ⚠
- p.Leu179Phe Single submitter ⚠
- p.Leu70Phe Single submitter ⚠
- p.Lys126Gln Single submitter ⚠
- p.Lys176Asn Single submitter ⚠
- p.Met102Leu Single submitter ⚠
- p.Met50Leu Single submitter ⚠
- p.Phe205Leu Single submitter ⚠
- p.Phe247Ser Single submitter ⚠
- p.Phe33Leu Single submitter ⚠
- p.Phe42Val Single submitter ⚠
- p.Pro208Leu Single submitter ⚠
- p.Pro208Ser Single submitter ⚠
- p.Pro259Ser Single submitter ⚠
- p.Pro46Ser Single submitter ⚠
- p.Ser181Leu Single submitter ⚠
- p.Thr275Met Single submitter ⚠
- p.Trp6Cys Single submitter ⚠
- p.Tyr223Cys Single submitter ⚠
- p.Tyr34Cys Single submitter ⚠
- p.Tyr56Cys Single submitter ⚠
- p.Val127Met Single submitter ⚠
- p.Val131Ile Single submitter ⚠
- p.Val135Ile Single submitter ⚠
- p.Val244Ala Single submitter ⚠
- p.Val40Ala Single submitter ⚠
- p.Val74Gly Single submitter ⚠