BCAT2 — 164 ClinVar variants
All ClinVar germline BCAT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →
6 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 3 Conflicting · 13 Benign · 49 Likely benign · 90 Uncertain significance
Full BCAT2 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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BCAT2 p.His46Arg Uncertain significance Multiple submitters
- BCAT2 p.Pro51Thr Uncertain significance Multiple submitters
- BCAT2 p.Val238Met Uncertain significance Multiple submitters
- BCAT2 p.Ala199Thr Uncertain significance Single submitter
-
BCAT2 p.Ala341Thr
Uncertain significance
Single submitter
hypervalinemia and hyperleucine-isoleucinemia
- BCAT2 p.Arg331Pro Uncertain significance Single submitter
- BCAT2 p.Arg333Gln Uncertain significance Single submitter
- BCAT2 p.Asn356Asp Uncertain significance Single submitter
- BCAT2 p.Gln38Lys Uncertain significance Single submitter
- BCAT2 p.Gly7Arg Uncertain significance Single submitter
- BCAT2 p.Ile383Val Uncertain significance Single submitter
- BCAT2 p.Leu211Phe Uncertain significance Single submitter
- BCAT2 p.Lys59Arg Uncertain significance Single submitter
- BCAT2 p.Lys73Glu Uncertain significance Single submitter
- BCAT2 p.Met132Ile Uncertain significance Single submitter
- BCAT2 p.Met41Arg Uncertain significance Single submitter
- BCAT2 p.Met67Ile Uncertain significance Single submitter
- BCAT2 p.Phe390Tyr Uncertain significance Single submitter
- BCAT2 p.Pro78Ser Uncertain significance Single submitter
- BCAT2 p.Thr319Ser Uncertain significance Single submitter
- BCAT2 p.Trp254Cys Uncertain significance Single submitter
- BCAT2 p.Trp70Arg Uncertain significance Single submitter
-
BCAT2 p.Val206Leu
Uncertain significance
Single submitter
hypervalinemia and hyperleucine-isoleucinemia
- BCAT2 p.Val297Ile Uncertain significance Single submitter
Predictors split 59
The independent predictors disagree with each other — read with care.
- BCAT2 p.Arg133His Uncertain significance Multiple submitters
- BCAT2 p.Arg247Trp Uncertain significance Multiple submitters
- BCAT2 p.Arg325Trp Uncertain significance Multiple submitters
- BCAT2 p.Arg333Gly Uncertain significance Multiple submitters
- BCAT2 p.Arg371His Uncertain significance Multiple submitters
- BCAT2 p.Asp112Asn Uncertain significance Multiple submitters
- BCAT2 p.Asp259Asn Uncertain significance Multiple submitters
- BCAT2 p.Leu167Ile Uncertain significance Multiple submitters
- BCAT2 p.Lys48Met Uncertain significance Multiple submitters
- BCAT2 p.Phe139Leu Uncertain significance Multiple submitters
- BCAT2 p.Pro202Leu Uncertain significance Multiple submitters
- BCAT2 p.Pro208Ser Uncertain significance Multiple submitters
- BCAT2 p.Pro287Leu Uncertain significance Multiple submitters
- BCAT2 p.Thr87Met Uncertain significance Multiple submitters
- BCAT2 p.Ala188Thr Uncertain significance Single submitter
- BCAT2 p.Ala305Thr Uncertain significance Single submitter
- BCAT2 p.Arg116Cys Uncertain significance Single submitter
- BCAT2 p.Arg116His Uncertain significance Single submitter
- BCAT2 p.Arg129His Uncertain significance Single submitter
- BCAT2 p.Arg12Gln Uncertain significance Single submitter
- BCAT2 p.Arg312Leu Uncertain significance Single submitter
- BCAT2 p.Arg312Trp Uncertain significance Single submitter
- BCAT2 p.Arg316His Uncertain significance Single submitter
- BCAT2 p.Arg331His Uncertain significance Single submitter
- BCAT2 p.Asp63Asn Uncertain significance Single submitter
- BCAT2 p.Glu177Gln Uncertain significance Single submitter
- BCAT2 p.Glu177Lys Uncertain significance Single submitter
- BCAT2 p.Glu277Lys Uncertain significance Single submitter
- BCAT2 p.Glu310Gln Uncertain significance Single submitter
- BCAT2 p.Glu53Lys Uncertain significance Single submitter
- BCAT2 p.Gly248Asp Uncertain significance Single submitter
- BCAT2 p.Gly337Ala Uncertain significance Single submitter
- BCAT2 p.Gly337Ser Uncertain significance Single submitter
- BCAT2 p.Gly365Arg Uncertain significance Single submitter
- BCAT2 p.Gly52Ser Likely benign Single submitter
- BCAT2 p.Gly74Ser Uncertain significance Single submitter
- BCAT2 p.Gly7Glu Uncertain significance Single submitter
- BCAT2 p.Gly7Trp Uncertain significance Single submitter
- BCAT2 p.Ile318Thr Uncertain significance Single submitter
- BCAT2 p.Leu167Phe Uncertain significance Single submitter
- BCAT2 p.Leu211Val Uncertain significance Single submitter
- BCAT2 p.Leu283Val Uncertain significance Single submitter
- BCAT2 p.Leu301Val Uncertain significance Single submitter
- BCAT2 p.Leu376Met Uncertain significance Single submitter
- BCAT2 p.Leu95Phe Uncertain significance Single submitter
- BCAT2 p.Lys374Glu Likely benign Single submitter
- BCAT2 p.Lys48Gln Uncertain significance Single submitter
- BCAT2 p.Pro160Ala Uncertain significance Single submitter
- BCAT2 p.Pro196Ala Uncertain significance Single submitter
- BCAT2 p.Pro215Arg Conflicting Single submitter
- BCAT2 p.Pro286Ser Uncertain significance Single submitter
- BCAT2 p.Pro391Leu Uncertain significance Single submitter
- BCAT2 p.Pro49Ser Uncertain significance Single submitter
- BCAT2 p.Thr317Met Uncertain significance Single submitter
- BCAT2 p.Thr87Arg Uncertain significance Single submitter
- BCAT2 p.Val172Ala Uncertain significance Single submitter
- BCAT2 p.Val206Met Uncertain significance Single submitter
- BCAT2 p.Val335Ala Likely benign Single submitter
-
BCAT2 p.Arg170Gln
Pathogenic
No assertion criteria
hypervalinemia and hyperleucine-isoleucinemia
All BCAT2 variants
Pathogenic 6
- p.Trp274Ter Single submitter
- p.Tyr200Ter Single submitter hypervalinemia and hyperleucine-isoleucinemia
- p.Arg170Gln No assertion criteria hypervalinemia and hyperleucine-isoleucinemia ⚠
- p.Glu264Lys No assertion criteria hypervalinemia and hyperleucine-isoleucinemia
- p.His46_Pro49del No assertion criteria hypervalinemia and hyperleucine-isoleucinemia
- p.Val182Gly No assertion criteria hypervalinemia and hyperleucine-isoleucinemia
Pathogenic/Likely pathogenic 1
- p.Leu301fs Multiple submitters hypervalinemia and hyperleucine-isoleucinemia
Likely pathogenic 2
- c.696-2A>G Single submitter
- p.Trp254Ter Single submitter hypervalinemia and hyperleucine-isoleucinemia
Conflicting classifications of pathogenicity 3
- p.Ile383Phe Single submitter ⚠
- p.Pro215Arg Single submitter ⚠
- p.Val291Ile Single submitter ⚠
Benign 13
- c.1065+8G>A Multiple submitters
- c.696-15A>G Multiple submitters
- c.838+17C>T Multiple submitters
- p.Gln100Glu Multiple submitters
- p.Leu262= Multiple submitters
- p.Thr186Arg Multiple submitters
- c.100-14C>T Single submitter
- c.1066-5C>A Single submitter
- c.25-5C>T Single submitter
- c.301-5dup Single submitter
- c.411+8dup Single submitter
- p.Ala162= Single submitter
- p.Pro208= Single submitter
Likely benign 49
- c.99+6A>G Multiple submitters
- p.Ala163= Multiple submitters
- p.Arg133= Multiple submitters
- p.Leu88= Multiple submitters
- c.100-13dup Single submitter
- c.100-14_100-13del Single submitter
- c.1065+7C>T Single submitter
- c.1066-13C>A Single submitter
- c.1066-16G>A Single submitter
- c.1066-17C>T Single submitter
- c.25-24TC[2] Single submitter
- c.300+11G>A Single submitter
- c.300+14C>T Single submitter
- c.300+15G>A Single submitter
- c.300+18C>A Single submitter
- c.300+18C>T Single submitter
- c.301-12G>A Single submitter
- c.411+12C>T Single submitter
- c.412-19C>G Single submitter
- c.695+9C>T Single submitter
- c.696-10C>G Single submitter
- c.696-10C>T Single submitter
- c.838+8C>T Single submitter
- c.924+8C>T Single submitter
- p.Arg116= Single submitter
- p.Arg325Gln Single submitter
- p.Arg333Trp Single submitter
- p.Asn176= Single submitter
- p.Glu310= Single submitter
- p.Gly104= Single submitter
- p.Gly52Ser Single submitter ⚠
- p.Ile152= Single submitter
- p.Leu136= Single submitter
- p.Leu255= Single submitter
- p.Leu288= Single submitter
- p.Leu376= Single submitter
- p.Leu66= Single submitter
- p.Lys374Glu Single submitter ⚠
- p.Lys73= Single submitter
- p.Phe390Leu Single submitter
- p.Pro160= Single submitter
- p.Pro171= Single submitter
- p.Pro258= Single submitter
- p.Pro51= Single submitter
- p.Ser338= Single submitter
- p.Thr62= Single submitter
- p.Val313= Single submitter
- p.Val335Ala Single submitter ⚠
- p.Val344= Single submitter
Uncertain significance 90
- p.Arg133His Multiple submitters ⚠
- p.Arg247Trp Multiple submitters ⚠
- p.Arg325Trp Multiple submitters ⚠
- p.Arg333Gly Multiple submitters ⚠
- p.Arg371His Multiple submitters ⚠
- p.Asp112Asn Multiple submitters ⚠
- p.Asp259Asn Multiple submitters ⚠
- p.His46Arg Multiple submitters ⚠
- p.Leu167Ile Multiple submitters ⚠
- p.Lys48Met Multiple submitters ⚠
- p.Phe139Leu Multiple submitters ⚠
- p.Pro202Leu Multiple submitters ⚠
- p.Pro208Ser Multiple submitters ⚠
- p.Pro287Leu Multiple submitters ⚠
- p.Pro51Thr Multiple submitters ⚠
- p.Thr87Met Multiple submitters ⚠
- p.Val238Met Multiple submitters ⚠
- c.1140+5G>A Single submitter
- c.1141-6C>G Single submitter
- c.1141-7T>G Single submitter
- c.411+5G>C Single submitter
- c.412-14A>G Single submitter
- c.695+4A>G Single submitter
- c.696-3C>G Single submitter
- c.839-12C>G Single submitter
- p.Ala11fs Single submitter hypervalinemia and hyperleucine-isoleucinemia
- p.Ala188Thr Single submitter ⚠
- p.Ala199Thr Single submitter ⚠
- p.Ala305Thr Single submitter ⚠
- p.Ala341Thr Single submitter hypervalinemia and hyperleucine-isoleucinemia ⚠
- p.Arg116Cys Single submitter ⚠
- p.Arg116His Single submitter ⚠
- p.Arg129His Single submitter ⚠
- p.Arg12Gln Single submitter ⚠
- p.Arg26= Single submitter
- p.Arg312Leu Single submitter ⚠
- p.Arg312Trp Single submitter ⚠
- p.Arg316His Single submitter ⚠
- p.Arg331His Single submitter ⚠
- p.Arg331Pro Single submitter ⚠
- p.Arg333Gln Single submitter ⚠
- p.Asn356Asp Single submitter ⚠
- p.Asp140fs Single submitter
- p.Asp63Asn Single submitter ⚠
- p.Gln343= Single submitter
- p.Gln38Lys Single submitter ⚠
- p.Glu177Gln Single submitter ⚠
- p.Glu177Lys Single submitter ⚠
- p.Glu277Lys Single submitter ⚠
- p.Glu310Gln Single submitter ⚠
- p.Glu53Lys Single submitter ⚠
- p.Gly248Asp Single submitter ⚠
- p.Gly337Ala Single submitter ⚠
- p.Gly337Ser Single submitter ⚠
- p.Gly365Arg Single submitter ⚠
- p.Gly74Ser Single submitter ⚠
- p.Gly7Arg Single submitter ⚠
- p.Gly7Glu Single submitter ⚠
- p.Gly7Trp Single submitter ⚠
- p.Ile318Thr Single submitter ⚠
- p.Ile383Val Single submitter ⚠
- p.Leu167Phe Single submitter ⚠
- p.Leu211Phe Single submitter ⚠
- p.Leu211Val Single submitter ⚠
- p.Leu283Val Single submitter ⚠
- p.Leu301Val Single submitter ⚠
- p.Leu376Met Single submitter ⚠
- p.Leu95Phe Single submitter ⚠
- p.Lys48Gln Single submitter ⚠
- p.Lys59Arg Single submitter ⚠
- p.Lys73Glu Single submitter ⚠
- p.Met132Ile Single submitter ⚠
- p.Met41Arg Single submitter ⚠
- p.Met67Ile Single submitter ⚠
- p.Phe390Tyr Single submitter ⚠
- p.Pro160Ala Single submitter ⚠
- p.Pro196Ala Single submitter ⚠
- p.Pro286Ser Single submitter ⚠
- p.Pro391Leu Single submitter ⚠
- p.Pro49Ser Single submitter ⚠
- p.Pro78Ser Single submitter ⚠
- p.Thr317Met Single submitter ⚠
- p.Thr319Ser Single submitter ⚠
- p.Thr87Arg Single submitter ⚠
- p.Trp254Cys Single submitter ⚠
- p.Trp70Arg Single submitter ⚠
- p.Val172Ala Single submitter ⚠
- p.Val206Leu Single submitter hypervalinemia and hyperleucine-isoleucinemia ⚠
- p.Val206Met Single submitter ⚠
- p.Val297Ile Single submitter ⚠