BACE2 — 81 ClinVar variants
All ClinVar germline BACE2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
6 Benign · 12 Likely benign · 63 Uncertain significance
Full BACE2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BACE2 p.Ala200Gly Uncertain significance Single submitter
- BACE2 p.Ala297Thr Uncertain significance Single submitter
- BACE2 p.Ala36Thr Uncertain significance Single submitter
- BACE2 p.Ala404Val Uncertain significance Single submitter
- BACE2 p.Ala474Val Uncertain significance Single submitter
- BACE2 p.Ala75Thr Uncertain significance Single submitter
- BACE2 p.Arg139His Uncertain significance Single submitter
- BACE2 p.Asn507Ser Uncertain significance Single submitter
- BACE2 p.Asp144Glu Uncertain significance Single submitter
- BACE2 p.Asp216Glu Uncertain significance Single submitter
- BACE2 p.Glu95Asp Uncertain significance Single submitter
- BACE2 p.Gly236Ser Uncertain significance Single submitter
- BACE2 p.Gly261Glu Uncertain significance Single submitter
- BACE2 p.Gly388Ser Uncertain significance Single submitter
- BACE2 p.Gly408Ser Uncertain significance Single submitter
- BACE2 p.Gly50Arg Uncertain significance Single submitter
- BACE2 p.Ile107Thr Uncertain significance Single submitter
- BACE2 p.Ile191Val Uncertain significance Single submitter
- BACE2 p.Ile329Val Uncertain significance Single submitter
- BACE2 p.Ile375Val Uncertain significance Single submitter
- BACE2 p.Leu24Pro Uncertain significance Single submitter
- BACE2 p.Leu328Pro Uncertain significance Single submitter
- BACE2 p.Leu64Gln Uncertain significance Single submitter
- BACE2 p.Met232Thr Uncertain significance Single submitter
- BACE2 p.Met80Leu Uncertain significance Single submitter
- BACE2 p.Pro11Leu Uncertain significance Single submitter
- BACE2 p.Pro377Thr Uncertain significance Single submitter
- BACE2 p.Pro466Arg Uncertain significance Single submitter
- BACE2 p.Ser172Pro Uncertain significance Single submitter
- BACE2 p.Thr121Ile Uncertain significance Single submitter
- BACE2 p.Thr244Ile Uncertain significance Single submitter
- BACE2 p.Thr450Ala Uncertain significance Single submitter
- BACE2 p.Val145Ile Uncertain significance Single submitter
- BACE2 p.Val506Ile Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- BACE2 p.His56Tyr Benign Multiple submitters
- BACE2 p.Ala25Val Uncertain significance Single submitter
- BACE2 p.Ala422Val Uncertain significance Single submitter
- BACE2 p.Ala430Gly Uncertain significance Single submitter
- BACE2 p.Ala5Thr Uncertain significance Single submitter
- BACE2 p.Ala69Val Uncertain significance Single submitter
- BACE2 p.Arg325Cys Uncertain significance Single submitter
- BACE2 p.Arg325His Uncertain significance Single submitter
- BACE2 p.Arg369Lys Uncertain significance Single submitter
- BACE2 p.Arg369Met Uncertain significance Single submitter
- BACE2 p.Arg495Trp Uncertain significance Single submitter
- BACE2 p.Arg498Cys Uncertain significance Single submitter
- BACE2 p.Arg501Cys Uncertain significance Single submitter
- BACE2 p.Gly246Arg Uncertain significance Single submitter
- BACE2 p.Leu174Ile Uncertain significance Single submitter
- BACE2 p.Leu31Pro Uncertain significance Single submitter
- BACE2 p.Phe29Cys Uncertain significance Single submitter
- BACE2 p.Phe29Ser Uncertain significance Single submitter
- BACE2 p.Pro32His Uncertain significance Single submitter
- BACE2 p.Pro432Ser Uncertain significance Single submitter
- BACE2 p.Pro459Ser Uncertain significance Single submitter
- BACE2 p.Pro47Ser Uncertain significance Single submitter
- BACE2 p.Ser477Thr Uncertain significance Single submitter
- BACE2 p.Thr100Ile Uncertain significance Single submitter
- BACE2 p.Tyr259Cys Uncertain significance Single submitter
- BACE2 p.Tyr473Cys Uncertain significance Single submitter
- BACE2 p.Val145Leu Uncertain significance Single submitter
- BACE2 p.Val158Ile Uncertain significance Single submitter
- BACE2 p.Val417Ile Uncertain significance Single submitter
- BACE2 p.Val488Phe Uncertain significance Single submitter
All BACE2 variants
Benign 6
- c.1135-10C>T Multiple submitters
- c.1304-8C>T Multiple submitters
- p.His56Tyr Multiple submitters ⚠
- c.748-10C>T No assertion criteria BACE2-related disorder
- p.Ala37= No assertion criteria BACE2-related disorder
- p.Asp364= No assertion criteria BACE2-related disorder
Likely benign 12
- p.Ser88= Multiple submitters
- p.Ala326Thr Single submitter
- p.Ala440= Single submitter
- p.Arg134= Single submitter
- p.Ile418Val Single submitter
- p.Ser462Pro Single submitter
- p.Val163= Single submitter
- p.Val411= Single submitter
- p.Val43Ala Single submitter
- p.Val478Ile Single submitter
- p.Val488Ile Single submitter
- p.Ala460Thr No assertion criteria BACE2-related disorder
Uncertain significance 63
- p.Ala200Gly Single submitter ⚠
- p.Ala25Val Single submitter ⚠
- p.Ala297Thr Single submitter ⚠
- p.Ala36Thr Single submitter ⚠
- p.Ala404Val Single submitter ⚠
- p.Ala422Val Single submitter ⚠
- p.Ala430Gly Single submitter ⚠
- p.Ala474Val Single submitter ⚠
- p.Ala5Thr Single submitter ⚠
- p.Ala69Val Single submitter ⚠
- p.Ala75Thr Single submitter ⚠
- p.Arg139His Single submitter ⚠
- p.Arg325Cys Single submitter ⚠
- p.Arg325His Single submitter ⚠
- p.Arg369Lys Single submitter ⚠
- p.Arg369Met Single submitter ⚠
- p.Arg495Trp Single submitter ⚠
- p.Arg498Cys Single submitter ⚠
- p.Arg501Cys Single submitter ⚠
- p.Asn507Ser Single submitter ⚠
- p.Asp144Glu Single submitter ⚠
- p.Asp216Glu Single submitter ⚠
- p.Glu95Asp Single submitter ⚠
- p.Gly236Ser Single submitter ⚠
- p.Gly246Arg Single submitter ⚠
- p.Gly261Glu Single submitter ⚠
- p.Gly388Ser Single submitter ⚠
- p.Gly408Ser Single submitter ⚠
- p.Gly50Arg Single submitter ⚠
- p.Ile107Thr Single submitter ⚠
- p.Ile191Val Single submitter ⚠
- p.Ile329Val Single submitter ⚠
- p.Ile375Val Single submitter ⚠
- p.Leu174Ile Single submitter ⚠
- p.Leu24Pro Single submitter ⚠
- p.Leu31Pro Single submitter ⚠
- p.Leu328Pro Single submitter ⚠
- p.Leu64Gln Single submitter ⚠
- p.Met232Thr Single submitter ⚠
- p.Met80Leu Single submitter ⚠
- p.Phe29Cys Single submitter ⚠
- p.Phe29Ser Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro32His Single submitter ⚠
- p.Pro377Thr Single submitter ⚠
- p.Pro432Ser Single submitter ⚠
- p.Pro459Ser Single submitter ⚠
- p.Pro466Arg Single submitter ⚠
- p.Pro47Ser Single submitter ⚠
- p.Ser172Pro Single submitter ⚠
- p.Ser477Thr Single submitter ⚠
- p.Thr100Ile Single submitter ⚠
- p.Thr121Ile Single submitter ⚠
- p.Thr244Ile Single submitter ⚠
- p.Thr450Ala Single submitter ⚠
- p.Tyr259Cys Single submitter ⚠
- p.Tyr473Cys Single submitter ⚠
- p.Val145Ile Single submitter ⚠
- p.Val145Leu Single submitter ⚠
- p.Val158Ile Single submitter ⚠
- p.Val417Ile Single submitter ⚠
- p.Val488Phe Single submitter ⚠
- p.Val506Ile Single submitter ⚠