DMRTA2 — 90 ClinVar variants
All ClinVar germline DMRTA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 87 flagged for review →
3 Benign · 1 Benign/Likely benign · 1 Likely benign · 85 Uncertain significance
Full DMRTA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 87
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DMRTA2 p.Ala253Pro Uncertain significance Single submitter
- DMRTA2 p.Ala267Gly Uncertain significance Single submitter
- DMRTA2 p.Ala382Thr Uncertain significance Single submitter
- DMRTA2 p.Ala408Gly Uncertain significance Single submitter
- DMRTA2 p.Ala412Val Uncertain significance Single submitter
- DMRTA2 p.Ala452Val Uncertain significance Single submitter
- DMRTA2 p.Ala459Gly Uncertain significance Single submitter
- DMRTA2 p.Ala71Ser Uncertain significance Single submitter
- DMRTA2 p.Arg498Pro Uncertain significance Single submitter
- DMRTA2 p.Asn352Ser Uncertain significance Single submitter
- DMRTA2 p.Asp369Glu Uncertain significance Single submitter
- DMRTA2 p.Asp380Glu Uncertain significance Single submitter
- DMRTA2 p.Glu155Gln Uncertain significance Single submitter
- DMRTA2 p.Gly167Arg Uncertain significance Single submitter
- DMRTA2 p.Gly236Ser Uncertain significance Single submitter
- DMRTA2 p.Gly374Arg Uncertain significance Single submitter
- DMRTA2 p.Gly374Asp Uncertain significance Single submitter
- DMRTA2 p.Gly490Ser Uncertain significance Single submitter
- DMRTA2 p.Leu420Pro Uncertain significance Single submitter
- DMRTA2 p.Leu457Pro Uncertain significance Single submitter
- DMRTA2 p.Lys189Thr Uncertain significance Single submitter
- DMRTA2 p.Lys541Arg Uncertain significance Single submitter
- DMRTA2 p.Met483Val Uncertain significance Single submitter
- DMRTA2 p.Pro211Ser Uncertain significance Single submitter
- DMRTA2 p.Pro24Thr Uncertain significance Single submitter
- DMRTA2 p.Pro278Ala Uncertain significance Single submitter
- DMRTA2 p.Pro301Ser Uncertain significance Single submitter
- DMRTA2 p.Pro316Ser Uncertain significance Single submitter
- DMRTA2 p.Pro403Leu Uncertain significance Single submitter
- DMRTA2 p.Pro413Leu Uncertain significance Single submitter
- DMRTA2 p.Pro440Leu Uncertain significance Single submitter
- DMRTA2 p.Pro485Arg Uncertain significance Single submitter
- DMRTA2 p.Pro485Ser Uncertain significance Single submitter
- DMRTA2 p.Pro499Ser Uncertain significance Single submitter
- DMRTA2 p.Ser229Leu Uncertain significance Single submitter
- DMRTA2 p.Ser262Gly Uncertain significance Single submitter
- DMRTA2 p.Ser309Leu Uncertain significance Single submitter
- DMRTA2 p.Ser446Thr Uncertain significance Single submitter
- DMRTA2 p.Ser477Gly Uncertain significance Single submitter
- DMRTA2 p.Thr15Ala Uncertain significance Single submitter
- DMRTA2 p.Val10Leu Uncertain significance Single submitter
Predictors split 46
The independent predictors disagree with each other — read with care.
- DMRTA2 p.Leu406Gln Uncertain significance Multiple submitters
- DMRTA2 p.Ser477Asn Benign/Likely benign Multiple submitters
- DMRTA2 p.Ala144Thr Uncertain significance Single submitter
- DMRTA2 p.Ala14Glu Uncertain significance Single submitter
- DMRTA2 p.Ala259Thr Uncertain significance Single submitter
- DMRTA2 p.Ala366Val Uncertain significance Single submitter
- DMRTA2 p.Ala377Thr Uncertain significance Single submitter
- DMRTA2 p.Ala378Thr Uncertain significance Single submitter
- DMRTA2 p.Ala392Ser Uncertain significance Single submitter
- DMRTA2 p.Ala396Ser Uncertain significance Single submitter
- DMRTA2 p.Ala408Val Uncertain significance Single submitter
- DMRTA2 p.Ala411Thr Uncertain significance Single submitter
- DMRTA2 p.Ala412Ser Uncertain significance Single submitter
- DMRTA2 p.Ala452Thr Uncertain significance Single submitter
- DMRTA2 p.Ala454Thr Uncertain significance Single submitter
- DMRTA2 p.Ala47Ser Uncertain significance Single submitter
- DMRTA2 p.Ala514Thr Uncertain significance Single submitter
- DMRTA2 p.Ala517Gly Uncertain significance Single submitter
- DMRTA2 p.Ala517Val Uncertain significance Single submitter
- DMRTA2 p.Arg478Gly Uncertain significance Single submitter
- DMRTA2 p.Arg52Gln Uncertain significance Single submitter
- DMRTA2 p.Asp507Glu Uncertain significance Single submitter
- DMRTA2 p.Gln119Glu Uncertain significance Single submitter
- DMRTA2 p.Glu137Lys Uncertain significance Single submitter
- DMRTA2 p.Gly179Glu Uncertain significance Single submitter
- DMRTA2 p.Gly182Ser Uncertain significance Single submitter
- DMRTA2 p.Gly289Cys Uncertain significance Single submitter
- DMRTA2 p.Gly427Arg Uncertain significance Single submitter
- DMRTA2 p.Gly479Cys Uncertain significance Single submitter
- DMRTA2 p.Leu402Met Uncertain significance Single submitter
- DMRTA2 p.Leu432Val Uncertain significance Single submitter
- DMRTA2 p.Met483Thr Uncertain significance Single submitter
- DMRTA2 p.Pro149Ser Uncertain significance Single submitter
- DMRTA2 p.Pro150Ala Uncertain significance Single submitter
- DMRTA2 p.Pro213Gln Uncertain significance Single submitter
- DMRTA2 p.Ser246Cys Uncertain significance Single submitter
- DMRTA2 p.Ser248Cys Uncertain significance Single submitter
- DMRTA2 p.Ser282Arg Uncertain significance Single submitter
- DMRTA2 p.Ser288Phe Uncertain significance Single submitter
- DMRTA2 p.Ser309Thr Uncertain significance Single submitter
- DMRTA2 p.Ser446Arg Uncertain significance Single submitter
- DMRTA2 p.Ser477Arg Uncertain significance Single submitter
- DMRTA2 p.Ser506Arg Uncertain significance Single submitter
- DMRTA2 p.Val233Met Uncertain significance Single submitter
- DMRTA2 p.Val350Leu Uncertain significance Single submitter
-
DMRTA2 p.Ala514Val
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
All DMRTA2 variants
Benign 3
- p.Ala394= Multiple submitters
- p.Ala396= Multiple submitters
- p.Ala396_Ala397del Single submitter
Benign/Likely benign 1
- p.Ser477Asn Multiple submitters ⚠
Likely benign 1
- p.Ala514Val No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
Uncertain significance 85
- p.Leu406Gln Multiple submitters ⚠
- p.Ala144Thr Single submitter ⚠
- p.Ala14Glu Single submitter ⚠
- p.Ala253Pro Single submitter ⚠
- p.Ala259Thr Single submitter ⚠
- p.Ala267Gly Single submitter ⚠
- p.Ala366Val Single submitter ⚠
- p.Ala377Thr Single submitter ⚠
- p.Ala378Thr Single submitter ⚠
- p.Ala382Thr Single submitter ⚠
- p.Ala392Ser Single submitter ⚠
- p.Ala396Ser Single submitter ⚠
- p.Ala408Gly Single submitter ⚠
- p.Ala408Val Single submitter ⚠
- p.Ala411Thr Single submitter ⚠
- p.Ala412Ser Single submitter ⚠
- p.Ala412Val Single submitter ⚠
- p.Ala452Thr Single submitter ⚠
- p.Ala452Val Single submitter ⚠
- p.Ala454Thr Single submitter ⚠
- p.Ala459Gly Single submitter ⚠
- p.Ala47Ser Single submitter ⚠
- p.Ala514Thr Single submitter ⚠
- p.Ala517Gly Single submitter ⚠
- p.Ala517Val Single submitter ⚠
- p.Ala71Ser Single submitter ⚠
- p.Arg478Gly Single submitter ⚠
- p.Arg498Pro Single submitter ⚠
- p.Arg52Gln Single submitter ⚠
- p.Asn352Ser Single submitter ⚠
- p.Asp369Glu Single submitter ⚠
- p.Asp380Glu Single submitter ⚠
- p.Asp507Glu Single submitter ⚠
- p.Gln119Glu Single submitter ⚠
- p.Glu137Lys Single submitter ⚠
- p.Glu155Gln Single submitter ⚠
- p.Gly167Arg Single submitter ⚠
- p.Gly179Glu Single submitter ⚠
- p.Gly182Ser Single submitter ⚠
- p.Gly236Ser Single submitter ⚠
- p.Gly289Cys Single submitter ⚠
- p.Gly374Arg Single submitter ⚠
- p.Gly374Asp Single submitter ⚠
- p.Gly427Arg Single submitter ⚠
- p.Gly479Cys Single submitter ⚠
- p.Gly490Ser Single submitter ⚠
- p.Leu402Met Single submitter ⚠
- p.Leu420Pro Single submitter ⚠
- p.Leu432Val Single submitter ⚠
- p.Leu457Pro Single submitter ⚠
- p.Lys189Thr Single submitter ⚠
- p.Lys541Arg Single submitter ⚠
- p.Met483Thr Single submitter ⚠
- p.Met483Val Single submitter ⚠
- p.Pro149Ser Single submitter ⚠
- p.Pro150Ala Single submitter ⚠
- p.Pro211Ser Single submitter ⚠
- p.Pro213Gln Single submitter ⚠
- p.Pro24Thr Single submitter ⚠
- p.Pro278Ala Single submitter ⚠
- p.Pro301Ser Single submitter ⚠
- p.Pro316Ser Single submitter ⚠
- p.Pro403Leu Single submitter ⚠
- p.Pro413Leu Single submitter ⚠
- p.Pro440Leu Single submitter ⚠
- p.Pro485Arg Single submitter ⚠
- p.Pro485Ser Single submitter ⚠
- p.Pro499Ser Single submitter ⚠
- p.Ser229Leu Single submitter ⚠
- p.Ser246Cys Single submitter ⚠
- p.Ser248Cys Single submitter ⚠
- p.Ser262Gly Single submitter ⚠
- p.Ser282Arg Single submitter ⚠
- p.Ser288Phe Single submitter ⚠
- p.Ser309Leu Single submitter ⚠
- p.Ser309Thr Single submitter ⚠
- p.Ser446Arg Single submitter ⚠
- p.Ser446Thr Single submitter ⚠
- p.Ser477Arg Single submitter ⚠
- p.Ser477Gly Single submitter ⚠
- p.Ser506Arg Single submitter ⚠
- p.Thr15Ala Single submitter ⚠
- p.Val10Leu Single submitter ⚠
- p.Val233Met Single submitter ⚠
- p.Val350Leu Single submitter ⚠