BST2 — 20 ClinVar variants
All ClinVar germline BST2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
3 Likely benign · 17 Uncertain significance
Full BST2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BST2 p.Ala107Asp Uncertain significance Single submitter
- BST2 p.Ala163Thr Uncertain significance Single submitter
- BST2 p.Ala177Pro Uncertain significance Single submitter
- BST2 p.Arg10Ser Uncertain significance Single submitter
- BST2 p.Arg147Thr Uncertain significance Single submitter
- BST2 p.Asp159His Uncertain significance Single submitter
- BST2 p.Asp83Asn Uncertain significance Single submitter
- BST2 p.Gly16Arg Uncertain significance Single submitter
- BST2 p.Gly56Ser Uncertain significance Single submitter
- BST2 p.His68Arg Uncertain significance Single submitter
- BST2 p.Met13Val Uncertain significance Single submitter
- BST2 p.Tyr6Cys Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All BST2 variants
Likely benign 3
- p.Ala130= Single submitter
- p.Arg10Lys Single submitter
- p.Ile34Val Single submitter
Uncertain significance 17
- p.Ala107Asp Single submitter ⚠
- p.Ala163Thr Single submitter ⚠
- p.Ala177Pro Single submitter ⚠
- p.Arg10Ser Single submitter ⚠
- p.Arg147Thr Single submitter ⚠
- p.Arg19Cys Single submitter ⚠
- p.Arg19Gly Single submitter ⚠
- p.Arg58Trp Single submitter ⚠
- p.Asp159His Single submitter ⚠
- p.Asp83Asn Single submitter ⚠
- p.Gly16Arg Single submitter ⚠
- p.Gly56Ser Single submitter ⚠
- p.His68Arg Single submitter ⚠
- p.Leu22Phe Single submitter ⚠
- p.Leu24Arg Single submitter ⚠
- p.Met13Val Single submitter ⚠
- p.Tyr6Cys Single submitter ⚠