BOD1 — 36 ClinVar variants
All ClinVar germline BOD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 7 Likely benign · 27 Uncertain significance
Full BOD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BOD1 p.Ala158Glu Uncertain significance Single submitter
- BOD1 p.Ala158Val Uncertain significance Single submitter
- BOD1 p.Ala21Pro Uncertain significance Single submitter
- BOD1 p.Ala23Thr Uncertain significance Single submitter
- BOD1 p.Ala32Thr Uncertain significance Single submitter
- BOD1 p.Ala42Thr Uncertain significance Single submitter
- BOD1 p.Arg151Gln Uncertain significance Single submitter
- BOD1 p.Gly14Asp Uncertain significance Single submitter
- BOD1 p.Gly24Arg Uncertain significance Single submitter
- BOD1 p.Gly24Val Uncertain significance Single submitter
- BOD1 p.Gly4Arg Uncertain significance Single submitter
- BOD1 p.Gly4Val Uncertain significance Single submitter
- BOD1 p.Leu85Pro Uncertain significance Single submitter
- BOD1 p.Pro168Thr Uncertain significance Single submitter
- BOD1 p.Pro169Leu Uncertain significance Single submitter
- BOD1 p.Pro170Ser Uncertain significance Single submitter
-
BOD1 p.Pro172Ala
Uncertain significance
Single submitter
BOD1-related Intellectual Disability
- BOD1 p.Pro180Leu Uncertain significance Single submitter
- BOD1 p.Ser181Thr Uncertain significance Single submitter
- BOD1 p.Thr105Met Uncertain significance Single submitter
- BOD1 p.Thr30Ser Uncertain significance Single submitter
- BOD1 p.Val119Ala Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All BOD1 variants
Pathogenic 1
- p.Arg112Ter Single submitter
Likely pathogenic 1
- p.Arg151Ter Single submitter
Likely benign 7
- c.*1+6G>A No assertion criteria BOD1-related disorder
- p.Ala158= No assertion criteria BOD1-related disorder
- p.Arg151= No assertion criteria BOD1-related disorder
- p.Asp183= No assertion criteria BOD1-related disorder
- p.Lys161= No assertion criteria BOD1-related disorder
- p.Ser181= No assertion criteria BOD1-related disorder
- p.Ter186LysextTer? No assertion criteria BOD1-related disorder
Uncertain significance 27
- c.238-8C>G Single submitter
- p.Ala158Glu Single submitter ⚠
- p.Ala158Val Single submitter ⚠
- p.Ala21Pro Single submitter ⚠
- p.Ala23Thr Single submitter ⚠
- p.Ala32Thr Single submitter ⚠
- p.Ala42Thr Single submitter ⚠
- p.Arg151Gln Single submitter ⚠
- p.Gly14Asp Single submitter ⚠
- p.Gly24Arg Single submitter ⚠
- p.Gly24Val Single submitter ⚠
- p.Gly4Arg Single submitter ⚠
- p.Gly4Val Single submitter ⚠
- p.His96Tyr Single submitter
- p.Leu141Phe Single submitter ⚠
- p.Leu85Pro Single submitter ⚠
- p.Pro168Thr Single submitter ⚠
- p.Pro169Leu Single submitter ⚠
- p.Pro170Ser Single submitter ⚠
- p.Pro172Ala Single submitter BOD1-related Intellectual Disability ⚠
- p.Pro180Leu Single submitter ⚠
- p.Ser118Cys Single submitter
- p.Ser181Thr Single submitter ⚠
- p.Thr105Met Single submitter ⚠
- p.Thr30Ser Single submitter ⚠
- p.Val119Ala Single submitter ⚠
- p.Ile153fs No assertion criteria BOD1-related disorder