BBC3 — 56 ClinVar variants
All ClinVar germline BBC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Benign/Likely benign · 17 Likely benign · 38 Uncertain significance
Full BBC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BBC3 c.*16C>T Uncertain significance Single submitter
- BBC3 c.*46C>T Uncertain significance Single submitter
- BBC3 c.*57C>T Uncertain significance Single submitter
- BBC3 c.*64C>G Uncertain significance Single submitter
- BBC3 c.*76C>G Uncertain significance Single submitter
- BBC3 p.Ala114Pro Uncertain significance Single submitter
- BBC3 p.Ala134= Uncertain significance Single submitter
- BBC3 p.Ala145= Uncertain significance Single submitter
- BBC3 p.Ala2= Uncertain significance Single submitter
- BBC3 p.Arg156= Uncertain significance Single submitter
- BBC3 p.Arg169= Uncertain significance Single submitter
- BBC3 p.Arg29Cys Uncertain significance Single submitter
- BBC3 p.Gln121= Uncertain significance Single submitter
- BBC3 p.Gln14Lys Uncertain significance Single submitter
- BBC3 p.Glu153Gln Uncertain significance Single submitter
- BBC3 p.Glu41Asp Uncertain significance Single submitter
- BBC3 p.Glu41Ter Uncertain significance Single submitter
- BBC3 p.His103Gln Uncertain significance Single submitter
- BBC3 p.Pro11= Uncertain significance Single submitter
- BBC3 p.Pro112= Uncertain significance Single submitter
- BBC3 p.Pro124= Uncertain significance Single submitter
- BBC3 p.Pro22= Uncertain significance Single submitter
- BBC3 p.Pro26= Uncertain significance Single submitter
- BBC3 p.Ser33= Uncertain significance Single submitter
- BBC3 p.Ser83Arg Uncertain significance Single submitter
- BBC3 p.Thr120Pro Uncertain significance Single submitter
- BBC3 p.Val126= Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- BBC3 c.-3G>A Uncertain significance Single submitter
- BBC3 c.*79G>T Uncertain significance Single submitter
- BBC3 c.*94C>T Uncertain significance Single submitter
- BBC3 p.Ala50Thr Uncertain significance Single submitter
- BBC3 p.Arg135Trp Uncertain significance Single submitter
- BBC3 p.Glu101Lys Uncertain significance Single submitter
- BBC3 p.Glu105= Likely benign Single submitter
- BBC3 p.Gly87= Uncertain significance Single submitter
- BBC3 p.Leu115= Uncertain significance Single submitter
- BBC3 p.Leu30= Uncertain significance Single submitter
- BBC3 p.Pro42= Uncertain significance Single submitter
- BBC3 p.Val68Ile Uncertain significance Single submitter
All BBC3 variants
Benign/Likely benign 1
- c.*23C>T Multiple submitters
Likely benign 17
- c.*34C>T Single submitter
- p.Ala150Glu Single submitter
- p.Arg162Gln Single submitter
- p.Arg19His Single submitter
- p.Glu105= Single submitter ⚠
- p.Gly113Glu Single submitter
- p.Gly74Asp Single submitter
- p.Ile137Thr Single submitter
- p.Leu59His Single submitter
- p.Met5Val Single submitter
- p.Phe25Tyr Single submitter
- p.Pro165Leu Single submitter
- p.Pro26Arg Single submitter
- p.Pro90Leu Single submitter
- p.Ser166Leu Single submitter
- p.Ser75Phe Single submitter
- p.Thr52Ile Single submitter
Uncertain significance 38
- c.-3G>A Single submitter ⚠
- c.*16C>T Single submitter ⚠
- c.*46C>T Single submitter ⚠
- c.*57C>T Single submitter ⚠
- c.*64C>G Single submitter ⚠
- c.*76C>G Single submitter ⚠
- c.*79G>T Single submitter ⚠
- c.*94C>T Single submitter ⚠
- p.Ala114Pro Single submitter ⚠
- p.Ala134= Single submitter ⚠
- p.Ala145= Single submitter ⚠
- p.Ala2= Single submitter ⚠
- p.Ala50Thr Single submitter ⚠
- p.Arg135Trp Single submitter ⚠
- p.Arg156= Single submitter ⚠
- p.Arg169= Single submitter ⚠
- p.Arg29Cys Single submitter ⚠
- p.Gln121= Single submitter ⚠
- p.Gln14Lys Single submitter ⚠
- p.Glu101Lys Single submitter ⚠
- p.Glu153Gln Single submitter ⚠
- p.Glu41Asp Single submitter ⚠
- p.Glu41Ter Single submitter ⚠
- p.Gly87= Single submitter ⚠
- p.His103Gln Single submitter ⚠
- p.Leu115= Single submitter ⚠
- p.Leu30= Single submitter ⚠
- p.Pro11= Single submitter ⚠
- p.Pro112= Single submitter ⚠
- p.Pro124= Single submitter ⚠
- p.Pro22= Single submitter ⚠
- p.Pro26= Single submitter ⚠
- p.Pro42= Single submitter ⚠
- p.Ser33= Single submitter ⚠
- p.Ser83Arg Single submitter ⚠
- p.Thr120Pro Single submitter ⚠
- p.Val126= Single submitter ⚠
- p.Val68Ile Single submitter ⚠