BTG4 — 37 ClinVar variants
All ClinVar germline BTG4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
3 Pathogenic · 2 Likely pathogenic · 1 Likely benign · 31 Uncertain significance
Full BTG4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTG4 p.Ala56Gly Uncertain significance Single submitter
- BTG4 p.Arg136Lys Uncertain significance Single submitter
- BTG4 p.Arg186Cys Uncertain significance Single submitter
- BTG4 p.Arg186His Uncertain significance Single submitter
- BTG4 p.Arg194His Uncertain significance Single submitter
- BTG4 p.Arg2Lys Uncertain significance Single submitter
- BTG4 p.Asn64Ser Uncertain significance Single submitter
- BTG4 p.Asn65Ser Uncertain significance Single submitter
- BTG4 p.Asp49Asn Uncertain significance Single submitter
- BTG4 p.Glu155Gly Uncertain significance Single submitter
- BTG4 p.Gly193Arg Uncertain significance Single submitter
- BTG4 p.His110Arg Uncertain significance Single submitter
- BTG4 p.His110Gln Uncertain significance Single submitter
- BTG4 p.His45Arg Uncertain significance Single submitter
- BTG4 p.Ile27Thr Uncertain significance Single submitter
- BTG4 p.Ile94Val Uncertain significance Single submitter
- BTG4 p.Leu197Pro Uncertain significance Single submitter
- BTG4 p.Leu197Val Uncertain significance Single submitter
- BTG4 p.Lys210Glu Uncertain significance Single submitter
- BTG4 p.Lys53Arg Uncertain significance Single submitter
- BTG4 p.Lys68Arg Uncertain significance Single submitter
- BTG4 p.Met92Leu Uncertain significance Single submitter
- BTG4 p.Val141Ile Uncertain significance Single submitter
- BTG4 p.Val171Ile Uncertain significance Single submitter
- BTG4 p.Val191Gly Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All BTG4 variants
Pathogenic 3
- p.Ile159fs No assertion criteria oocyte maturation defect 8
- p.Met1Val No assertion criteria oocyte maturation defect 8
- p.Trp95Cys No assertion criteria oocyte maturation defect 8
Likely pathogenic 2
- p.Ala56Thr Single submitter oocyte maturation defect 8
- p.Gln25Ter Single submitter oocyte maturation defect 8
Likely benign 1
- p.Ser205Leu Single submitter
Uncertain significance 31
- p.Arg136Gly Multiple submitters ⚠
- p.Ala56Gly Single submitter ⚠
- p.Arg136Lys Single submitter ⚠
- p.Arg186Cys Single submitter ⚠
- p.Arg186His Single submitter ⚠
- p.Arg194His Single submitter ⚠
- p.Arg2Lys Single submitter ⚠
- p.Asn64Ser Single submitter ⚠
- p.Asn65Ser Single submitter ⚠
- p.Asp49Asn Single submitter ⚠
- p.Glu155Gly Single submitter ⚠
- p.Gly193Arg Single submitter ⚠
- p.His110Arg Single submitter ⚠
- p.His110Gln Single submitter ⚠
- p.His45Arg Single submitter ⚠
- p.Ile27Thr Single submitter ⚠
- p.Ile94Val Single submitter ⚠
- p.Leu197Pro Single submitter ⚠
- p.Leu197Val Single submitter ⚠
- p.Lys210Glu Single submitter ⚠
- p.Lys53Arg Single submitter ⚠
- p.Lys68Arg Single submitter ⚠
- p.Met92Leu Single submitter ⚠
- p.Pro165Leu Single submitter
- p.Ser167Arg Single submitter ⚠
- p.Ser79Gly Single submitter ⚠
- p.Trp181Cys Single submitter ⚠
- p.Trp181Gly Single submitter ⚠
- p.Val141Ile Single submitter ⚠
- p.Val171Ile Single submitter ⚠
- p.Val191Gly Single submitter ⚠