BTN3A1 — 65 ClinVar variants
All ClinVar germline BTN3A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
1 Benign · 7 Likely benign · 57 Uncertain significance
Full BTN3A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTN3A1 p.Ala294Ser Uncertain significance Single submitter
- BTN3A1 p.Ala340Val Uncertain significance Single submitter
- BTN3A1 p.Ala91Thr Uncertain significance Single submitter
- BTN3A1 p.Arg315Lys Uncertain significance Single submitter
- BTN3A1 p.Asn13Ser Uncertain significance Single submitter
- BTN3A1 p.Asn186Asp Uncertain significance Single submitter
- BTN3A1 p.Asp197Glu Uncertain significance Single submitter
- BTN3A1 p.Gln22His Uncertain significance Single submitter
- BTN3A1 p.Gln246Arg Uncertain significance Single submitter
- BTN3A1 p.Gln272Lys Uncertain significance Single submitter
- BTN3A1 p.Glu446Asp Uncertain significance Single submitter
- BTN3A1 p.Glu446Lys Uncertain significance Single submitter
- BTN3A1 p.Glu467Asp Uncertain significance Single submitter
- BTN3A1 p.Glu504Asp Uncertain significance Single submitter
- BTN3A1 p.Gly228Ser Uncertain significance Single submitter
- BTN3A1 p.Ile482Thr Uncertain significance Single submitter
- BTN3A1 p.Lys366Glu Uncertain significance Single submitter
- BTN3A1 p.Phe9Cys Uncertain significance Single submitter
- BTN3A1 p.Pro173Ser Uncertain significance Single submitter
- BTN3A1 p.Pro193Arg Uncertain significance Single submitter
- BTN3A1 p.Ser234Asn Uncertain significance Single submitter
- BTN3A1 p.Ser489Pro Uncertain significance Single submitter
- BTN3A1 p.Thr279Ser Uncertain significance Single submitter
- BTN3A1 p.Thr62Ala Uncertain significance Single submitter
- BTN3A1 p.Trp407Cys Uncertain significance Single submitter
- BTN3A1 p.Tyr474Asp Uncertain significance Single submitter
- BTN3A1 p.Val218Ile Uncertain significance Single submitter
- BTN3A1 p.Val399Met Uncertain significance Single submitter
- BTN3A1 p.Val488Gly Uncertain significance Single submitter
- BTN3A1 p.Val488Ile Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- BTN3A1 p.Leu227His Likely benign Multiple submitters
- BTN3A1 p.Ala251Ser Uncertain significance Single submitter
- BTN3A1 p.Ala251Thr Uncertain significance Single submitter
- BTN3A1 p.Ala48Thr Uncertain significance Single submitter
- BTN3A1 p.Arg101Trp Uncertain significance Single submitter
- BTN3A1 p.Arg364His Uncertain significance Single submitter
- BTN3A1 p.Arg418Lys Likely benign Single submitter
- BTN3A1 p.Arg448Gly Uncertain significance Single submitter
- BTN3A1 p.Gln30His Uncertain significance Single submitter
- BTN3A1 p.Gly184Glu Uncertain significance Single submitter
- BTN3A1 p.Gly212Asp Likely benign Single submitter
- BTN3A1 p.Gly254Glu Uncertain significance Single submitter
- BTN3A1 p.Gly264Ala Uncertain significance Single submitter
- BTN3A1 p.Gly386Ser Uncertain significance Single submitter
- BTN3A1 p.Gly420Arg Uncertain significance Single submitter
- BTN3A1 p.Gly434Glu Likely benign Single submitter
- BTN3A1 p.His481Gln Uncertain significance Single submitter
- BTN3A1 p.Ile104Thr Uncertain significance Single submitter
- BTN3A1 p.Ile113Leu Uncertain significance Single submitter
- BTN3A1 p.Leu263Pro Uncertain significance Single submitter
- BTN3A1 p.Lys338Asn Uncertain significance Single submitter
- BTN3A1 p.Lys405Glu Uncertain significance Single submitter
- BTN3A1 p.Phe128Ser Uncertain significance Single submitter
- BTN3A1 p.Phe14Cys Uncertain significance Single submitter
- BTN3A1 p.Phe378Leu Uncertain significance Single submitter
- BTN3A1 p.Pro188Thr Uncertain significance Single submitter
- BTN3A1 p.Pro257Thr Uncertain significance Single submitter
- BTN3A1 p.Pro375Leu Uncertain significance Single submitter
- BTN3A1 p.Ser90Asn Uncertain significance Single submitter
- BTN3A1 p.Thr509Asn Uncertain significance Single submitter
- BTN3A1 p.Val460Leu Uncertain significance Single submitter
All BTN3A1 variants
Benign 1
- p.Thr509= Single submitter
Likely benign 7
- p.Leu227His Multiple submitters ⚠
- p.Ala196Val Single submitter
- p.Arg418Lys Single submitter ⚠
- p.Gly212Asp Single submitter ⚠
- p.Gly434Glu Single submitter ⚠
- p.Thr443Ala Single submitter
- p.Tyr382Ter Single submitter
Uncertain significance 57
- p.Ala251Ser Single submitter ⚠
- p.Ala251Thr Single submitter ⚠
- p.Ala294Ser Single submitter ⚠
- p.Ala340Val Single submitter ⚠
- p.Ala48Thr Single submitter ⚠
- p.Ala91Thr Single submitter ⚠
- p.Arg101Trp Single submitter ⚠
- p.Arg315Lys Single submitter ⚠
- p.Arg364His Single submitter ⚠
- p.Arg448Gly Single submitter ⚠
- p.Asn13Ser Single submitter ⚠
- p.Asn186Asp Single submitter ⚠
- p.Asp197Glu Single submitter ⚠
- p.Gln22His Single submitter ⚠
- p.Gln246Arg Single submitter ⚠
- p.Gln272Lys Single submitter ⚠
- p.Gln30His Single submitter ⚠
- p.Glu446Asp Single submitter ⚠
- p.Glu446Lys Single submitter ⚠
- p.Glu467Asp Single submitter ⚠
- p.Glu504Asp Single submitter ⚠
- p.Gly184Glu Single submitter ⚠
- p.Gly228Ser Single submitter ⚠
- p.Gly254Glu Single submitter ⚠
- p.Gly264Ala Single submitter ⚠
- p.Gly386Ser Single submitter ⚠
- p.Gly420Arg Single submitter ⚠
- p.His481Gln Single submitter ⚠
- p.Ile104Thr Single submitter ⚠
- p.Ile113Leu Single submitter ⚠
- p.Ile482Thr Single submitter ⚠
- p.Leu263Pro Single submitter ⚠
- p.Lys338Asn Single submitter ⚠
- p.Lys366Glu Single submitter ⚠
- p.Lys405Glu Single submitter ⚠
- p.Phe128Ser Single submitter ⚠
- p.Phe14Cys Single submitter ⚠
- p.Phe378Leu Single submitter ⚠
- p.Phe9Cys Single submitter ⚠
- p.Pro173Ser Single submitter ⚠
- p.Pro188Thr Single submitter ⚠
- p.Pro193Arg Single submitter ⚠
- p.Pro257Thr Single submitter ⚠
- p.Pro375Leu Single submitter ⚠
- p.Ser234Asn Single submitter ⚠
- p.Ser489Pro Single submitter ⚠
- p.Ser90Asn Single submitter ⚠
- p.Thr279Ser Single submitter ⚠
- p.Thr509Asn Single submitter ⚠
- p.Thr62Ala Single submitter ⚠
- p.Trp407Cys Single submitter ⚠
- p.Tyr474Asp Single submitter ⚠
- p.Val218Ile Single submitter ⚠
- p.Val399Met Single submitter ⚠
- p.Val460Leu Single submitter ⚠
- p.Val488Gly Single submitter ⚠
- p.Val488Ile Single submitter ⚠