BTN2A2 — 104 ClinVar variants
All ClinVar germline BTN2A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →
12 Benign · 15 Likely benign · 77 Uncertain significance
Full BTN2A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 85
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTN2A2 p.Ala210Ser Uncertain significance Single submitter
- BTN2A2 p.Ala254Thr Uncertain significance Single submitter
- BTN2A2 p.Ala327Val Uncertain significance Single submitter
- BTN2A2 p.Ala378Thr Uncertain significance Single submitter
- BTN2A2 p.Ala5Thr Uncertain significance Single submitter
- BTN2A2 p.Arg219Ser Uncertain significance Single submitter
- BTN2A2 p.Arg445Pro Uncertain significance Single submitter
- BTN2A2 p.Arg473His Uncertain significance Single submitter
- BTN2A2 p.Arg97Gln Uncertain significance Single submitter
- BTN2A2 p.Asn461Ile Uncertain significance Single submitter
- BTN2A2 p.Cys223Arg Uncertain significance Single submitter
- BTN2A2 p.Cys27Arg Uncertain significance Single submitter
- BTN2A2 p.Cys471Phe Uncertain significance Single submitter
- BTN2A2 p.Glu195Lys Uncertain significance Single submitter
- BTN2A2 p.Glu305Lys Uncertain significance Single submitter
- BTN2A2 p.Glu509Lys Uncertain significance Single submitter
- BTN2A2 p.Gly231Ser Uncertain significance Single submitter
- BTN2A2 p.Gly373Ala Uncertain significance Single submitter
- BTN2A2 p.Gly38Trp Uncertain significance Single submitter
- BTN2A2 p.His382Asp Uncertain significance Single submitter
- BTN2A2 p.Ile495Thr Uncertain significance Single submitter
- BTN2A2 p.Leu331Pro Uncertain significance Single submitter
- BTN2A2 p.Met245Leu Uncertain significance Single submitter
- BTN2A2 p.Phe278Val Uncertain significance Single submitter
- BTN2A2 p.Trp384Cys Uncertain significance Single submitter
- BTN2A2 p.Tyr354Cys Uncertain significance Single submitter
- BTN2A2 p.Val30Gly Uncertain significance Single submitter
- BTN2A2 p.Val393Glu Uncertain significance Single submitter
- BTN2A2 p.Val403Ala Uncertain significance Single submitter
Predictors split 56
The independent predictors disagree with each other — read with care.
- BTN2A2 p.Ala147Gly Uncertain significance Single submitter
- BTN2A2 p.Ala199Thr Uncertain significance Single submitter
- BTN2A2 p.Ala201Pro Uncertain significance Single submitter
- BTN2A2 p.Ala248Glu Uncertain significance Single submitter
- BTN2A2 p.Ala248Pro Uncertain significance Single submitter
- BTN2A2 p.Ala261Thr Likely benign Single submitter
- BTN2A2 p.Ala454Val Uncertain significance Single submitter
- BTN2A2 p.Ala78Thr Uncertain significance Single submitter
- BTN2A2 p.Arg128Cys Uncertain significance Single submitter
- BTN2A2 p.Arg143Cys Uncertain significance Single submitter
- BTN2A2 p.Arg143Leu Uncertain significance Single submitter
- BTN2A2 p.Arg351Gln Uncertain significance Single submitter
- BTN2A2 p.Arg351Trp Uncertain significance Single submitter
- BTN2A2 p.Arg428Gln Uncertain significance Single submitter
- BTN2A2 p.Arg428Leu Uncertain significance Single submitter
- BTN2A2 p.Arg428Trp Benign Single submitter
- BTN2A2 p.Arg445Trp Uncertain significance Single submitter
- BTN2A2 p.Arg69Gln Uncertain significance Single submitter
- BTN2A2 p.Arg99Gly Uncertain significance Single submitter
- BTN2A2 p.Asn62Thr Uncertain significance Single submitter
- BTN2A2 p.Glu123Gly Uncertain significance Single submitter
- BTN2A2 p.Glu133Lys Uncertain significance Single submitter
- BTN2A2 p.Glu308Gly Uncertain significance Single submitter
- BTN2A2 p.Glu339Asp Uncertain significance Single submitter
- BTN2A2 p.Glu339Lys Uncertain significance Single submitter
- BTN2A2 p.Glu387Lys Uncertain significance Single submitter
- BTN2A2 p.Glu60Lys Uncertain significance Single submitter
- BTN2A2 p.Gly187Ser Likely benign Single submitter
- BTN2A2 p.Gly48Val Uncertain significance Single submitter
- BTN2A2 p.His337Gln Uncertain significance Single submitter
- BTN2A2 p.Leu144Ile Uncertain significance Single submitter
- BTN2A2 p.Leu15Phe Uncertain significance Single submitter
- BTN2A2 p.Leu16Pro Uncertain significance Single submitter
- BTN2A2 p.Leu430Val Uncertain significance Single submitter
- BTN2A2 p.Met392Ile Uncertain significance Single submitter
- BTN2A2 p.Met66Val Uncertain significance Single submitter
- BTN2A2 p.Pro250Leu Uncertain significance Single submitter
- BTN2A2 p.Pro338His Uncertain significance Single submitter
- BTN2A2 p.Pro359Thr Uncertain significance Single submitter
- BTN2A2 p.Pro39Ala Benign Single submitter
- BTN2A2 p.Pro39Thr Uncertain significance Single submitter
- BTN2A2 p.Pro472Thr Uncertain significance Single submitter
- BTN2A2 p.Pro479Ser Benign Single submitter
- BTN2A2 p.Pro77Arg Uncertain significance Single submitter
- BTN2A2 p.Ser104Ile Uncertain significance Single submitter
- BTN2A2 p.Ser222Tyr Uncertain significance Single submitter
- BTN2A2 p.Ser282Asn Uncertain significance Single submitter
- BTN2A2 p.Thr120Ile Uncertain significance Single submitter
- BTN2A2 p.Thr228Asn Uncertain significance Single submitter
- BTN2A2 p.Thr228Ile Uncertain significance Single submitter
- BTN2A2 p.Thr335Ala Uncertain significance Single submitter
- BTN2A2 p.Tyr137Phe Uncertain significance Single submitter
- BTN2A2 p.Val349Met Uncertain significance Single submitter
-
BTN2A2 p.Ala336Thr
Benign
No assertion criteria
BTN2A2-related disorder
-
BTN2A2 p.Gly203Ser
Benign
No assertion criteria
BTN2A2-related disorder
-
BTN2A2 p.Tyr460Cys
Benign
No assertion criteria
BTN2A2-related disorder
All BTN2A2 variants
Benign 12
- p.Ala4Val Single submitter
- p.Arg428Trp Single submitter ⚠
- p.Lys513Thr Single submitter
- p.Pro39Ala Single submitter ⚠
- p.Pro479Ser Single submitter ⚠
- p.Ser267Ala Single submitter
- c.980-88G>C No assertion criteria BTN2A2-related disorder
- p.Ala336Thr No assertion criteria BTN2A2-related disorder ⚠
- p.Gly203Ser No assertion criteria BTN2A2-related disorder ⚠
- p.Leu19= No assertion criteria BTN2A2-related disorder
- p.Ser466= No assertion criteria BTN2A2-related disorder
- p.Tyr460Cys No assertion criteria BTN2A2-related disorder ⚠
Likely benign 15
- p.Ala261Thr Single submitter ⚠
- p.Arg435Lys Single submitter
- p.Gly187Ser Single submitter ⚠
- p.His401Asp Single submitter
- p.Phe275Leu Single submitter
- p.Thr477Ser Single submitter
- c.443-8C>G No assertion criteria BTN2A2-related disorder
- c.932-3C>T No assertion criteria BTN2A2-related disorder
- p.Ala192Ser No assertion criteria BTN2A2-related disorder
- p.Asn118= No assertion criteria BTN2A2-related disorder
- p.Met506Thr No assertion criteria BTN2A2-related disorder
- p.Phe365= No assertion criteria BTN2A2-related disorder
- p.Thr209= No assertion criteria BTN2A2-related disorder
- p.Thr260= No assertion criteria BTN2A2-related disorder
- p.Tyr137= No assertion criteria BTN2A2-related disorder
Uncertain significance 77
- p.Ala147Gly Single submitter ⚠
- p.Ala199Thr Single submitter ⚠
- p.Ala201Pro Single submitter ⚠
- p.Ala210Ser Single submitter ⚠
- p.Ala248Glu Single submitter ⚠
- p.Ala248Pro Single submitter ⚠
- p.Ala254Thr Single submitter ⚠
- p.Ala327Val Single submitter ⚠
- p.Ala378Thr Single submitter ⚠
- p.Ala454Val Single submitter ⚠
- p.Ala5Thr Single submitter ⚠
- p.Ala78Thr Single submitter ⚠
- p.Arg128Cys Single submitter ⚠
- p.Arg143Cys Single submitter ⚠
- p.Arg143Leu Single submitter ⚠
- p.Arg219Ser Single submitter ⚠
- p.Arg351Gln Single submitter ⚠
- p.Arg351Trp Single submitter ⚠
- p.Arg428Gln Single submitter ⚠
- p.Arg428Leu Single submitter ⚠
- p.Arg445Pro Single submitter ⚠
- p.Arg445Trp Single submitter ⚠
- p.Arg473His Single submitter ⚠
- p.Arg69Gln Single submitter ⚠
- p.Arg97Gln Single submitter ⚠
- p.Arg99Gly Single submitter ⚠
- p.Asn461Ile Single submitter ⚠
- p.Asn62Thr Single submitter ⚠
- p.Cys223Arg Single submitter ⚠
- p.Cys27Arg Single submitter ⚠
- p.Cys471Phe Single submitter ⚠
- p.Glu123Gly Single submitter ⚠
- p.Glu133Lys Single submitter ⚠
- p.Glu195Lys Single submitter ⚠
- p.Glu305Lys Single submitter ⚠
- p.Glu308Gly Single submitter ⚠
- p.Glu339Asp Single submitter ⚠
- p.Glu339Lys Single submitter ⚠
- p.Glu387Lys Single submitter ⚠
- p.Glu509Lys Single submitter ⚠
- p.Glu60Lys Single submitter ⚠
- p.Gly231Ser Single submitter ⚠
- p.Gly373Ala Single submitter ⚠
- p.Gly38Trp Single submitter ⚠
- p.Gly48Val Single submitter ⚠
- p.His337Gln Single submitter ⚠
- p.His382Asp Single submitter ⚠
- p.Ile495Thr Single submitter ⚠
- p.Leu144Ile Single submitter ⚠
- p.Leu15Phe Single submitter ⚠
- p.Leu16Pro Single submitter ⚠
- p.Leu331Pro Single submitter ⚠
- p.Leu430Val Single submitter ⚠
- p.Met245Leu Single submitter ⚠
- p.Met392Ile Single submitter ⚠
- p.Met66Val Single submitter ⚠
- p.Phe278Val Single submitter ⚠
- p.Pro250Leu Single submitter ⚠
- p.Pro338His Single submitter ⚠
- p.Pro359Thr Single submitter ⚠
- p.Pro39Thr Single submitter ⚠
- p.Pro472Thr Single submitter ⚠
- p.Pro77Arg Single submitter ⚠
- p.Ser104Ile Single submitter ⚠
- p.Ser222Tyr Single submitter ⚠
- p.Ser282Asn Single submitter ⚠
- p.Thr120Ile Single submitter ⚠
- p.Thr228Asn Single submitter ⚠
- p.Thr228Ile Single submitter ⚠
- p.Thr335Ala Single submitter ⚠
- p.Trp384Cys Single submitter ⚠
- p.Tyr137Phe Single submitter ⚠
- p.Tyr354Cys Single submitter ⚠
- p.Val30Gly Single submitter ⚠
- p.Val349Met Single submitter ⚠
- p.Val393Glu Single submitter ⚠
- p.Val403Ala Single submitter ⚠