BPGM — 54 ClinVar variants
All ClinVar germline BPGM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
4 Pathogenic · 1 Conflicting · 1 Benign · 14 Likely benign · 34 Uncertain significance
Full BPGM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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BPGM p.Arg227Cys
Conflicting
Single submitter
hemolytic anemia due to diphosphoglycerate mutase deficiency
Predictors lean, ClinVar uncertain 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BPGM p.Glu176Lys Uncertain significance Multiple submitters
- BPGM p.His198Gln Uncertain significance Multiple submitters
- BPGM p.Ala243Val Uncertain significance Single submitter
- BPGM p.Arg10Thr Uncertain significance Single submitter
-
BPGM p.Arg154Gln
Uncertain significance
Single submitter
hemolytic anemia due to diphosphoglycerate mutase deficiency
- BPGM p.Arg154Leu Uncertain significance Single submitter
-
BPGM p.Arg21His
Uncertain significance
Single submitter
hemolytic anemia due to diphosphoglycerate mutase deficiency
- BPGM p.Arg86Cys Uncertain significance Single submitter
- BPGM p.Asn61Thr Uncertain significance Single submitter
- BPGM p.Asp146Asn Uncertain significance Single submitter
- BPGM p.Glu163Gly Uncertain significance Single submitter
- BPGM p.Gly97Arg Uncertain significance Single submitter
- BPGM p.His188Tyr Uncertain significance Single submitter
- BPGM p.Ile7Leu Uncertain significance Single submitter
- BPGM p.Leu105Val Uncertain significance Single submitter
- BPGM p.Pro123Leu Uncertain significance Single submitter
- BPGM p.Ser83Cys Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- BPGM p.His11Asn Uncertain significance Multiple submitters
- BPGM p.Arg140Gln Uncertain significance Single submitter
- BPGM p.Arg140Trp Uncertain significance Single submitter
- BPGM p.Arg172Met Uncertain significance Single submitter
- BPGM p.Arg39Trp Uncertain significance Single submitter
- BPGM p.Arg86His Uncertain significance Single submitter
- BPGM p.Asp139His Uncertain significance Single submitter
- BPGM p.Gln151His Uncertain significance Single submitter
- BPGM p.Glu109Lys Uncertain significance Single submitter
- BPGM p.Glu171Gly Uncertain significance Single submitter
- BPGM p.His130Tyr Uncertain significance Single submitter
- BPGM p.Ile218Thr Uncertain significance Single submitter
- BPGM p.Ile245Thr Uncertain significance Single submitter
- BPGM p.Met8Thr Uncertain significance Single submitter
- BPGM p.Ser192Asn Uncertain significance Single submitter
All BPGM variants
Pathogenic 4
- p.Arg90Cys Single submitter hemolytic anemia due to diphosphoglycerate mutase deficiency
- p.Arg21fs No assertion criteria hemolytic anemia due to diphosphoglycerate mutase deficiency
- p.Arg62Gln No assertion criteria hemolytic anemia due to diphosphoglycerate mutase deficiency
- p.Arg90His No assertion criteria hemolytic anemia due to diphosphoglycerate mutase deficiency
Conflicting classifications of pathogenicity 1
- p.Arg227Cys Single submitter hemolytic anemia due to diphosphoglycerate mutase deficiency ⚠
Benign 1
- c.-100CTG[10] Single submitter
Likely benign 14
- p.Arg62= Multiple submitters
- p.Leu162= Multiple submitters
- c.601+16A>G Single submitter hemolytic anemia due to diphosphoglycerate mutase deficiency
- p.Arg227His Single submitter
- p.Cys145= Single submitter
- p.Gln151= Single submitter
- p.Leu196= Single submitter
- p.Leu220= Single submitter
- p.Leu87= Single submitter
- p.Phe22= Single submitter
- p.Pro123= Single submitter
- p.Pro213= Single submitter
- p.Thr182= Single submitter
- p.Val112= Single submitter
Uncertain significance 34
- p.Glu176Lys Multiple submitters ⚠
- p.His11Asn Multiple submitters ⚠
- p.His198Gln Multiple submitters ⚠
- p.Ala243Val Single submitter ⚠
- p.Ala244Val Single submitter
- p.Arg10Thr Single submitter ⚠
- p.Arg140Gln Single submitter ⚠
- p.Arg140Trp Single submitter ⚠
- p.Arg154Gln Single submitter hemolytic anemia due to diphosphoglycerate mutase deficiency ⚠
- p.Arg154Leu Single submitter ⚠
- p.Arg172Met Single submitter ⚠
- p.Arg21His Single submitter hemolytic anemia due to diphosphoglycerate mutase deficiency ⚠
- p.Arg39Trp Single submitter ⚠
- p.Arg86Cys Single submitter ⚠
- p.Arg86His Single submitter ⚠
- p.Asn61Thr Single submitter ⚠
- p.Asp139His Single submitter ⚠
- p.Asp146Asn Single submitter ⚠
- p.Gln151His Single submitter ⚠
- p.Glu109Lys Single submitter ⚠
- p.Glu163Gly Single submitter ⚠
- p.Glu171Gly Single submitter ⚠
- p.Gly97Arg Single submitter ⚠
- p.His130Tyr Single submitter ⚠
- p.His188Tyr Single submitter ⚠
- p.Ile218Thr Single submitter ⚠
- p.Ile245Thr Single submitter ⚠
- p.Ile7Leu Single submitter ⚠
- p.Leu105Val Single submitter ⚠
- p.Leu165Phe Single submitter
- p.Met8Thr Single submitter ⚠
- p.Pro123Leu Single submitter ⚠
- p.Ser192Asn Single submitter ⚠
- p.Ser83Cys Single submitter ⚠