BRI3BP — 35 ClinVar variants
All ClinVar germline BRI3BP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
2 Likely benign · 33 Uncertain significance
Full BRI3BP 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 lean, ClinVar uncertain 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BRI3BP p.Ala3Thr Uncertain significance Single submitter
- BRI3BP p.Ala41Pro Uncertain significance Single submitter
- BRI3BP p.Ala41Val Uncertain significance Single submitter
- BRI3BP p.Arg240Gln Uncertain significance Single submitter
- BRI3BP p.Arg247His Uncertain significance Single submitter
- BRI3BP p.Arg79Lys Uncertain significance Single submitter
- BRI3BP p.Asn108Ser Uncertain significance Single submitter
- BRI3BP p.Asn51Ser Uncertain significance Single submitter
- BRI3BP p.Asn65Ser Uncertain significance Single submitter
- BRI3BP p.Gln33Arg Uncertain significance Single submitter
- BRI3BP p.Glu97Lys Uncertain significance Single submitter
- BRI3BP p.His175Asn Uncertain significance Single submitter
- BRI3BP p.His226Asn Uncertain significance Single submitter
- BRI3BP p.Ile160Met Uncertain significance Single submitter
- BRI3BP p.Leu109Val Uncertain significance Single submitter
- BRI3BP p.Leu10Val Uncertain significance Single submitter
- BRI3BP p.Leu91Pro Uncertain significance Single submitter
- BRI3BP p.Met197Val Uncertain significance Single submitter
- BRI3BP p.Ser58Thr Uncertain significance Single submitter
- BRI3BP p.Tyr46His Uncertain significance Single submitter
- BRI3BP p.Val149Ile Uncertain significance Single submitter
- BRI3BP p.Val50Ile Uncertain significance Single submitter
- BRI3BP p.Val88Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- BRI3BP p.Arg47His Uncertain significance Single submitter
- BRI3BP p.Arg47Ser Uncertain significance Single submitter
- BRI3BP p.Glu178Lys Uncertain significance Single submitter
- BRI3BP p.Gly2Arg Uncertain significance Single submitter
- BRI3BP p.Leu234Val Uncertain significance Single submitter
- BRI3BP p.Phe145Leu Uncertain significance Single submitter
- BRI3BP p.Phe53Leu Uncertain significance Single submitter
- BRI3BP p.Pro122Ser Uncertain significance Single submitter
- BRI3BP p.Ser54Phe Uncertain significance Single submitter
- BRI3BP p.Val81Leu Uncertain significance Single submitter
All BRI3BP variants
Likely benign 2
- p.Gly211Ser Single submitter
- p.Ser210Gly Single submitter
Uncertain significance 33
- p.Ala3Thr Single submitter ⚠
- p.Ala41Pro Single submitter ⚠
- p.Ala41Val Single submitter ⚠
- p.Arg240Gln Single submitter ⚠
- p.Arg247His Single submitter ⚠
- p.Arg47His Single submitter ⚠
- p.Arg47Ser Single submitter ⚠
- p.Arg79Lys Single submitter ⚠
- p.Asn108Ser Single submitter ⚠
- p.Asn51Ser Single submitter ⚠
- p.Asn65Ser Single submitter ⚠
- p.Gln33Arg Single submitter ⚠
- p.Glu178Lys Single submitter ⚠
- p.Glu97Lys Single submitter ⚠
- p.Gly2Arg Single submitter ⚠
- p.His175Asn Single submitter ⚠
- p.His226Asn Single submitter ⚠
- p.Ile160Met Single submitter ⚠
- p.Leu109Val Single submitter ⚠
- p.Leu10Val Single submitter ⚠
- p.Leu234Val Single submitter ⚠
- p.Leu91Pro Single submitter ⚠
- p.Met197Val Single submitter ⚠
- p.Phe145Leu Single submitter ⚠
- p.Phe53Leu Single submitter ⚠
- p.Pro122Ser Single submitter ⚠
- p.Ser54Phe Single submitter ⚠
- p.Ser58Thr Single submitter ⚠
- p.Tyr46His Single submitter ⚠
- p.Val149Ile Single submitter ⚠
- p.Val50Ile Single submitter ⚠
- p.Val81Leu Single submitter ⚠
- p.Val88Met Single submitter ⚠