BIRC7 — 49 ClinVar variants
All ClinVar germline BIRC7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
2 Benign · 8 Likely benign · 39 Uncertain significance
Full BIRC7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BIRC7 p.Arg160Lys Uncertain significance Single submitter
- BIRC7 p.Arg90Cys Uncertain significance Single submitter
- BIRC7 p.Asp5Gly Uncertain significance Single submitter
- BIRC7 p.Cys124Tyr Uncertain significance Single submitter
- BIRC7 p.Cys272Arg Uncertain significance Single submitter
- BIRC7 p.Glu211Gln Uncertain significance Single submitter
- BIRC7 p.Gly22Ser Uncertain significance Single submitter
- BIRC7 p.Gly83Ser Uncertain significance Single submitter
- BIRC7 p.Leu297Pro Uncertain significance Single submitter
- BIRC7 p.Leu89Ser Uncertain significance Single submitter
- BIRC7 p.Pro183Leu Uncertain significance Single submitter
- BIRC7 p.Pro204Arg Uncertain significance Single submitter
- BIRC7 p.Pro266Ser Uncertain significance Single submitter
- BIRC7 p.Pro277Ser Uncertain significance Single submitter
- BIRC7 p.Ser157Leu Uncertain significance Single submitter
- BIRC7 p.Ser34Pro Uncertain significance Single submitter
- BIRC7 p.Val260Leu Uncertain significance Single submitter
- BIRC7 p.Val260Met Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- BIRC7 p.Ala273Val Uncertain significance Single submitter
- BIRC7 p.Arg12His Likely benign Single submitter
- BIRC7 p.Arg156Trp Uncertain significance Single submitter
- BIRC7 p.Arg244Trp Uncertain significance Single submitter
- BIRC7 p.Arg245Gln Uncertain significance Single submitter
- BIRC7 p.Arg245Trp Uncertain significance Single submitter
- BIRC7 p.Arg290Cys Uncertain significance Single submitter
- BIRC7 p.Arg292His Uncertain significance Single submitter
- BIRC7 p.Arg294His Uncertain significance Single submitter
- BIRC7 p.Glu68Lys Uncertain significance Single submitter
- BIRC7 p.Gly137Glu Uncertain significance Single submitter
- BIRC7 p.Gly268Ser Uncertain significance Single submitter
- BIRC7 p.Gly57Cys Uncertain significance Single submitter
- BIRC7 p.Gly72Arg Uncertain significance Single submitter
- BIRC7 p.His170Asp Uncertain significance Single submitter
- BIRC7 p.Phe153Leu Uncertain significance Single submitter
- BIRC7 p.Phe162Ser Uncertain significance Single submitter
- BIRC7 p.Pro288His Uncertain significance Single submitter
- BIRC7 p.Pro79Ala Uncertain significance Single submitter
- BIRC7 p.Pro98Leu Uncertain significance Single submitter
- BIRC7 p.Ser176Cys Uncertain significance Single submitter
- BIRC7 p.Thr142Met Uncertain significance Single submitter
All BIRC7 variants
Benign 2
- p.Ala187Gly Multiple submitters
- p.Pro204Ser Multiple submitters
Likely benign 8
- p.Arg12Cys Single submitter
- p.Arg12His Single submitter ⚠
- p.Arg292Cys Single submitter
- p.Gly278Ser Single submitter
- p.Gly78Arg Single submitter
- p.Ile262Val Single submitter
- p.Leu75Ser Single submitter
- p.Val289Ile Single submitter
Uncertain significance 39
- p.Ala273Val Single submitter ⚠
- p.Arg156Trp Single submitter ⚠
- p.Arg160Lys Single submitter ⚠
- p.Arg244Trp Single submitter ⚠
- p.Arg245Gln Single submitter ⚠
- p.Arg245Trp Single submitter ⚠
- p.Arg290Cys Single submitter ⚠
- p.Arg292His Single submitter ⚠
- p.Arg294His Single submitter ⚠
- p.Arg90Cys Single submitter ⚠
- p.Asp5Gly Single submitter ⚠
- p.Cys124Tyr Single submitter ⚠
- p.Cys272Arg Single submitter ⚠
- p.Glu211Gln Single submitter ⚠
- p.Glu68Lys Single submitter ⚠
- p.Gly137Glu Single submitter ⚠
- p.Gly22Ser Single submitter ⚠
- p.Gly268Ser Single submitter ⚠
- p.Gly57Cys Single submitter ⚠
- p.Gly72Arg Single submitter ⚠
- p.Gly83Ser Single submitter ⚠
- p.His170Asp Single submitter ⚠
- p.Leu297Pro Single submitter ⚠
- p.Leu89Ser Single submitter ⚠
- p.Phe153Leu Single submitter ⚠
- p.Phe162Ser Single submitter ⚠
- p.Pro183Leu Single submitter ⚠
- p.Pro204Arg Single submitter ⚠
- p.Pro266Ser Single submitter ⚠
- p.Pro277Ser Single submitter ⚠
- p.Pro288His Single submitter ⚠
- p.Pro79Ala Single submitter ⚠
- p.Pro98Leu Single submitter ⚠
- p.Ser157Leu Single submitter ⚠
- p.Ser176Cys Single submitter ⚠
- p.Ser34Pro Single submitter ⚠
- p.Thr142Met Single submitter ⚠
- p.Val260Leu Single submitter ⚠
- p.Val260Met Single submitter ⚠