BTN3A2 — 54 ClinVar variants
All ClinVar germline BTN3A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
3 Benign · 2 Likely benign · 49 Uncertain significance
Full BTN3A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTN3A2 p.Ala110Thr Uncertain significance Single submitter
- BTN3A2 p.Ala182Asp Uncertain significance Single submitter
- BTN3A2 p.Ala245Thr Uncertain significance Single submitter
- BTN3A2 p.Ala266Val Uncertain significance Single submitter
- BTN3A2 p.Ala48Thr Uncertain significance Single submitter
- BTN3A2 p.Arg243Ser Uncertain significance Single submitter
- BTN3A2 p.Arg88Lys Uncertain significance Single submitter
- BTN3A2 p.Asn13Lys Uncertain significance Single submitter
- BTN3A2 p.Asp329Asn Uncertain significance Single submitter
- BTN3A2 p.Cys166Gly Uncertain significance Single submitter
- BTN3A2 p.Gln129Arg Uncertain significance Single submitter
- BTN3A2 p.Glu325Gly Uncertain significance Single submitter
- BTN3A2 p.His151Arg Uncertain significance Single submitter
- BTN3A2 p.His163Asn Uncertain significance Single submitter
- BTN3A2 p.Ile221Asn Uncertain significance Single submitter
- BTN3A2 p.Ile249Val Uncertain significance Single submitter
- BTN3A2 p.Lys315Glu Uncertain significance Single submitter
- BTN3A2 p.Ser121Asn Uncertain significance Single submitter
- BTN3A2 p.Ser6Thr Uncertain significance Single submitter
- BTN3A2 p.Thr298Arg Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- BTN3A2 p.Ala192Val Uncertain significance Single submitter
- BTN3A2 p.Ala233Gly Uncertain significance Single submitter
- BTN3A2 p.Ala264Thr Uncertain significance Single submitter
- BTN3A2 p.Ala60Gly Uncertain significance Single submitter
- BTN3A2 p.Arg101Gln Uncertain significance Single submitter
- BTN3A2 p.Arg94Gln Uncertain significance Single submitter
- BTN3A2 p.Asp81Tyr Uncertain significance Single submitter
- BTN3A2 p.Cys166Arg Uncertain significance Single submitter
- BTN3A2 p.Glu140Gln Uncertain significance Single submitter
- BTN3A2 p.Glu165Ala Uncertain significance Single submitter
- BTN3A2 p.Glu185Lys Uncertain significance Single submitter
- BTN3A2 p.Glu84Lys Uncertain significance Single submitter
- BTN3A2 p.Glu86Lys Uncertain significance Single submitter
- BTN3A2 p.Gly131Ser Uncertain significance Single submitter
- BTN3A2 p.Gly170Ser Uncertain significance Single submitter
- BTN3A2 p.Gly184Glu Uncertain significance Single submitter
- BTN3A2 p.Gly82Val Uncertain significance Single submitter
- BTN3A2 p.Met43Ile Uncertain significance Single submitter
- BTN3A2 p.Met63Val Uncertain significance Single submitter
- BTN3A2 p.Pro193Arg Uncertain significance Single submitter
- BTN3A2 p.Pro56Ala Uncertain significance Single submitter
- BTN3A2 p.Ser219Pro Uncertain significance Single submitter
- BTN3A2 p.Ser327Trp Uncertain significance Single submitter
- BTN3A2 p.Ser98Leu Uncertain significance Single submitter
- BTN3A2 p.Thr117Ile Uncertain significance Single submitter
- BTN3A2 p.Tyr134Cys Uncertain significance Single submitter
- BTN3A2 p.Val116Ile Uncertain significance Single submitter
- BTN3A2 p.Val139Met Uncertain significance Single submitter
- BTN3A2 p.Val78Met Uncertain significance Single submitter
All BTN3A2 variants
Benign 3
- c.715+2T>G Single submitter
- p.Asn77= Single submitter
- p.Ser327= Single submitter
Likely benign 2
- p.Gly228Ser Single submitter
- p.Thr57Asn Single submitter
Uncertain significance 49
- p.Ala110Thr Single submitter ⚠
- p.Ala182Asp Single submitter ⚠
- p.Ala192Val Single submitter ⚠
- p.Ala233Gly Single submitter ⚠
- p.Ala245Thr Single submitter ⚠
- p.Ala264Thr Single submitter ⚠
- p.Ala266Val Single submitter ⚠
- p.Ala48Thr Single submitter ⚠
- p.Ala60Gly Single submitter ⚠
- p.Arg101Gln Single submitter ⚠
- p.Arg243Ser Single submitter ⚠
- p.Arg88Lys Single submitter ⚠
- p.Arg94Gln Single submitter ⚠
- p.Asn13Lys Single submitter ⚠
- p.Asp329Asn Single submitter ⚠
- p.Asp81Tyr Single submitter ⚠
- p.Cys166Arg Single submitter ⚠
- p.Cys166Gly Single submitter ⚠
- p.Gln129Arg Single submitter ⚠
- p.Glu140Gln Single submitter ⚠
- p.Glu165Ala Single submitter ⚠
- p.Glu185Lys Single submitter ⚠
- p.Glu325Gly Single submitter ⚠
- p.Glu84Lys Single submitter ⚠
- p.Glu86Lys Single submitter ⚠
- p.Gly131Ser Single submitter ⚠
- p.Gly170Ser Single submitter ⚠
- p.Gly184Glu Single submitter ⚠
- p.Gly82Val Single submitter ⚠
- p.His151Arg Single submitter ⚠
- p.His163Asn Single submitter ⚠
- p.Ile221Asn Single submitter ⚠
- p.Ile249Val Single submitter ⚠
- p.Lys315Glu Single submitter ⚠
- p.Met43Ile Single submitter ⚠
- p.Met63Val Single submitter ⚠
- p.Pro193Arg Single submitter ⚠
- p.Pro56Ala Single submitter ⚠
- p.Ser121Asn Single submitter ⚠
- p.Ser219Pro Single submitter ⚠
- p.Ser327Trp Single submitter ⚠
- p.Ser6Thr Single submitter ⚠
- p.Ser98Leu Single submitter ⚠
- p.Thr117Ile Single submitter ⚠
- p.Thr298Arg Single submitter ⚠
- p.Tyr134Cys Single submitter ⚠
- p.Val116Ile Single submitter ⚠
- p.Val139Met Single submitter ⚠
- p.Val78Met Single submitter ⚠