NT5C3A — 154 ClinVar variants
All ClinVar germline NT5C3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
15 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 3 Conflicting · 25 Benign · 3 Benign/Likely benign · 28 Likely benign · 76 Uncertain significance
Full NT5C3A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll NT5C3A variants
Pathogenic 15
- c.139-9021dup Single submitter
- p.Arg56Ter Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Gln211Ter Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Glu167fs Single submitter
- p.Glu240Ter Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Trp147Ter Single submitter
- p.Val194fs Single submitter
- p.Val283fs Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- c.694-1G>C No assertion criteria hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- c.694-1G>T No assertion criteria hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Ala163fs No assertion criteria hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Asn224Ser No assertion criteria hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Asp227fs No assertion criteria hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Gly275Arg No assertion criteria hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Tyr215Ter No assertion criteria hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Pathogenic/Likely pathogenic 1
- p.Asp132Val Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Likely pathogenic 3
- c.693+1G>A Single submitter
- p.Thr112fs Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Cys115fs No assertion criteria hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Conflicting classifications of pathogenicity 3
- c.895-2A>G Single submitter
- p.Ala15Ser Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Val174Ile Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Benign 25
- c.139-9046T>C Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- c.139-9060del Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- c.440+9A>G Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Thr136= Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Tyr126= Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- c.138+213G>A Single submitter
- c.139-8721T>C Single submitter
- c.139-9268G>A Single submitter
- c.237+209G>A Single submitter
- c.307+159T>C Single submitter
- c.354+266A>G Single submitter
- c.355-266A>G Single submitter
- c.440+129T>G Single submitter
- c.440+279_440+280del Single submitter
- c.441-71T>C Single submitter
- c.531-295T>C Single submitter
- c.693+131C>T Single submitter
- c.693+256del Single submitter
- c.894+118A>G Single submitter
- c.894+141G>A Single submitter
- c.895-267G>A Single submitter
- c.895-351A>G Single submitter
- c.*224_*225insTCTT Single submitter
- c.*227del Single submitter
- c.*230T>C Single submitter
Benign/Likely benign 3
- c.139-4T>G Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Glu287= Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Phe31Leu Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Likely benign 28
- c.139-9025G>T Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- c.139-9034C>T Multiple submitters
- c.354+6C>A Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- c.693+16C>T Multiple submitters
- p.Asp173= Multiple submitters
- p.Tyr127= Multiple submitters
- c.354+17A>G Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- c.530+13G>C Single submitter
- c.693+17G>A Single submitter
- c.694-12T>C Single submitter
- c.694-20_694-19del Single submitter
- c.694-4A>G Single submitter
- c.894+8T>C Single submitter
- c.-5C>A Single submitter
- p.Ala15= Single submitter
- p.Ala163= Single submitter
- p.Ala7= Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Asp272= Single submitter
- p.Cys108= Single submitter
- p.Ile201= Single submitter
- p.Ile43= Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Leu135= Single submitter
- p.Phe31= Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Ser223= Single submitter
- p.Ser89= Single submitter
- p.Thr82= Single submitter
- p.Val194= Single submitter
- c.139-9061C>A No assertion criteria NT5C3A-related disorder
Uncertain significance 76
- p.Asn218Ser Multiple submitters
- p.Asn259Ser Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Asp185Gly Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Glu181Asp Multiple submitters
- p.Glu301Asp Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Leu270Pro Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Lys109Gln Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Met144Val Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Pro193Thr Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Thr136Ala Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Val233Leu Multiple submitters hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- c.139-9035C>T Single submitter
- c.139-9048_139-9037del Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- c.694-17del Single submitter
- c.895-3del Single submitter
- c.-2C>T Single submitter
- c.-42_-41delinsAT Single submitter
- p.Ala11Pro Single submitter
- p.Ala128Thr Single submitter
- p.Ala159Ser Single submitter
- p.Ala22Val Single submitter
- p.Arg210Cys Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Arg210His Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Arg253Thr Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Arg56Gln Single submitter
- p.Arg90Gly Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Asn182His Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Asn224His Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Asn254Asp Single submitter
- p.Asn285Ser Single submitter
- p.Asn324Ser Single submitter
- p.Asp203Asn Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Asp229Val Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Asp317His Single submitter
- p.Asp83Val Single submitter
- p.Asp85Gly Single submitter
- p.Asp85Val Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Cys115Trp Single submitter
- p.Cys18Arg Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Gln121Pro Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Glu139Gly Single submitter
- p.Glu178del Single submitter
- p.Glu207Lys Single submitter
- p.Glu318_Ser319insAspSerTyrAspIleValLeuValGlnAspGlu Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Gly179Val Single submitter
- p.Gly200Val Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Gly271Arg Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Gly74Glu Single submitter
- p.His216Asn Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.His243Asp Single submitter
- p.Ile129Val Single submitter
- p.Ile326Val Single submitter
- p.Ile330Met Single submitter
- p.Ile330Val Single submitter
- p.Leu135Ile Single submitter
- p.Lys117Ile Single submitter
- p.Lys123Met Single submitter
- p.Met279Val Single submitter
- p.Met307Ile Single submitter
- p.Met46Thr Single submitter
- p.Met86Thr Single submitter
- p.Phe184Ser Single submitter
- p.Phe195del Single submitter
- p.Pro48Thr Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Ser151Leu Single submitter
- p.Ser198Ala Single submitter
- p.Thr82Met Single submitter
- p.Tyr93Cys Single submitter
- p.Val137Ile Single submitter
- p.Val194Gly Single submitter
- p.Val219Ile Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- p.Val24Leu Single submitter
- p.Val24Met Single submitter
- p.Val299= Single submitter
- p.Val299Ala Single submitter
- p.Val55Ile Single submitter hemolytic anemia due to pyrimidine 5' nucleotidase deficiency