A2M — 188 ClinVar variants
All ClinVar germline A2M variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 153 flagged for review →
18 Benign · 22 Likely benign · 148 Uncertain significance
Full A2M gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 153
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 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- A2M p.Ala1266Thr Uncertain significance Single submitter
- A2M p.Ala583Thr Uncertain significance Single submitter
- A2M p.Ala615Val Uncertain significance Single submitter
- A2M p.Arg1185His Uncertain significance Single submitter
- A2M p.Arg174His Uncertain significance Single submitter
- A2M p.Arg823Gln Uncertain significance Single submitter
- A2M p.Asn816Asp Uncertain significance Single submitter
- A2M p.Asn867Lys Uncertain significance Single submitter
- A2M p.Asp427Val Uncertain significance Single submitter
- A2M p.Asp897Tyr Uncertain significance Single submitter
- A2M p.Asp988Asn Uncertain significance Single submitter
- A2M p.Cys299Tyr Uncertain significance Single submitter
- A2M p.Gln208Glu Uncertain significance Single submitter
- A2M p.Gln368Glu Uncertain significance Single submitter
- A2M p.Glu1198Val Uncertain significance Single submitter
- A2M p.Glu401Ala Uncertain significance Single submitter
- A2M p.Glu42Lys Uncertain significance Single submitter
- A2M p.Glu640Asp Uncertain significance Single submitter
- A2M p.Glu640Lys Uncertain significance Single submitter
- A2M p.Glu80Asp Uncertain significance Single submitter
- A2M p.Glu881Gly Uncertain significance Single submitter
- A2M p.Glu929Gln Uncertain significance Single submitter
- A2M p.Gly280Ser Uncertain significance Single submitter
- A2M p.Gly777Glu Uncertain significance Single submitter
- A2M p.His402Arg Uncertain significance Single submitter
- A2M p.His445Arg Uncertain significance Single submitter
- A2M p.His646Arg Uncertain significance Single submitter
- A2M p.Ile1005Val Uncertain significance Single submitter
- A2M p.Ile1460Thr Uncertain significance Single submitter
- A2M p.Ile241Val Uncertain significance Single submitter
- A2M p.Ile409Val Uncertain significance Single submitter
- A2M p.Leu1109Arg Uncertain significance Single submitter
- A2M p.Leu320Val Uncertain significance Single submitter
- A2M p.Leu468Ile Uncertain significance Single submitter
- A2M p.Lys1003Thr Uncertain significance Single submitter
- A2M p.Lys1162Arg Uncertain significance Single submitter
- A2M p.Lys1356Glu Uncertain significance Single submitter
- A2M p.Met666Thr Uncertain significance Single submitter
- A2M p.Phe1248Ser Uncertain significance Single submitter
- A2M p.Phe181Ser Uncertain significance Single submitter
- A2M p.Pro218Thr Uncertain significance Single submitter
- A2M p.Pro454Ser Uncertain significance Single submitter
- A2M p.Pro536Arg Uncertain significance Single submitter
- A2M p.Pro726Leu Uncertain significance Single submitter
- A2M p.Pro937Ser Uncertain significance Single submitter
- A2M p.Ser1225Leu Uncertain significance Single submitter
- A2M p.Ser127Arg Uncertain significance Single submitter
- A2M p.Ser1402Ala Uncertain significance Single submitter
- A2M p.Ser1411Asn Uncertain significance Single submitter
- A2M p.Ser668Asn Uncertain significance Single submitter
- A2M p.Thr1232Ala Uncertain significance Single submitter
- A2M p.Thr1347Ile Uncertain significance Single submitter
- A2M p.Thr486Ser Uncertain significance Single submitter
- A2M p.Thr654Arg Uncertain significance Single submitter
- A2M p.Tyr1018Cys Uncertain significance Single submitter
- A2M p.Tyr1323His Uncertain significance Single submitter
- A2M p.Tyr734Phe Uncertain significance Single submitter
- A2M p.Val1235Met Uncertain significance Single submitter
- A2M p.Val149Ile Uncertain significance Single submitter
- A2M p.Val353Leu Uncertain significance Single submitter
- A2M p.Val587Ala Uncertain significance Single submitter
- A2M p.Val594Ile Uncertain significance Single submitter
- A2M p.Val723Ala Uncertain significance Single submitter
- A2M p.Val794Leu Uncertain significance Single submitter
- A2M p.Val887Ala Uncertain significance Single submitter
- A2M p.Val940Glu Uncertain significance Single submitter
Predictors split 87
The independent predictors disagree with each other — read with care.
- A2M p.Pro261Leu Benign Multiple submitters
- A2M p.Ala1174Gly Uncertain significance Single submitter
- A2M p.Ala1219Asp Uncertain significance Single submitter
-
A2M p.Ala981Ser
Uncertain significance
Single submitter
A2M-related disorder
- A2M p.Arg1122Cys Uncertain significance Single submitter
- A2M p.Arg1163Thr Uncertain significance Single submitter
- A2M p.Arg117Leu Uncertain significance Single submitter
- A2M p.Arg1373His Uncertain significance Single submitter
- A2M p.Arg370Cys Uncertain significance Single submitter
- A2M p.Arg539Gln Uncertain significance Single submitter
- A2M p.Arg586Gly Uncertain significance Single submitter
- A2M p.Arg787Gln Likely benign Single submitter
- A2M p.Arg804His Uncertain significance Single submitter
- A2M p.Asn1331Ser Uncertain significance Single submitter
- A2M p.Asn680Ser Uncertain significance Single submitter
- A2M p.Asp1353His Uncertain significance Single submitter
- A2M p.Asp742Asn Uncertain significance Single submitter
- A2M p.Cys1467Gly Uncertain significance Single submitter
- A2M p.Gln1074Arg Uncertain significance Single submitter
- A2M p.Gln1277Lys Uncertain significance Single submitter
- A2M p.Glu1129Lys Uncertain significance Single submitter
- A2M p.Glu160Val Uncertain significance Single submitter
- A2M p.Glu230Gly Uncertain significance Single submitter
- A2M p.Glu245Lys Uncertain significance Single submitter
- A2M p.Glu764Lys Uncertain significance Single submitter
- A2M p.Gly1141Asp Uncertain significance Single submitter
- A2M p.His1259Pro Uncertain significance Single submitter
- A2M p.Ile1005Phe Uncertain significance Single submitter
- A2M p.Ile1005Thr Uncertain significance Single submitter
- A2M p.Ile1058Thr Uncertain significance Single submitter
- A2M p.Ile552Thr Uncertain significance Single submitter
- A2M p.Ile762Met Uncertain significance Single submitter
- A2M p.Leu1427Met Uncertain significance Single submitter
- A2M p.Leu164Val Uncertain significance Single submitter
- A2M p.Leu540Trp Uncertain significance Single submitter
- A2M p.Lys108Glu Uncertain significance Single submitter
- A2M p.Lys312Asn Uncertain significance Single submitter
- A2M p.Lys382Glu Likely benign Single submitter
- A2M p.Lys664Arg Uncertain significance Single submitter
- A2M p.Lys901Thr Uncertain significance Single submitter
- A2M p.Lys93Met Uncertain significance Single submitter
- A2M p.Met1385Val Uncertain significance Single submitter
- A2M p.Phe102Leu Uncertain significance Single submitter
- A2M p.Phe366Leu Uncertain significance Single submitter
- A2M p.Phe458Cys Uncertain significance Single submitter
- A2M p.Pro1349Ser Uncertain significance Single submitter
- A2M p.Pro259Ser Uncertain significance Single submitter
- A2M p.Pro36Ser Uncertain significance Single submitter
- A2M p.Pro579Ala Uncertain significance Single submitter
- A2M p.Pro591Ser Uncertain significance Single submitter
- A2M p.Pro623Arg Uncertain significance Single submitter
- A2M p.Pro862Ser Uncertain significance Single submitter
- A2M p.Ser1402Cys Uncertain significance Single submitter
- A2M p.Ser180Thr Uncertain significance Single submitter
- A2M p.Ser614Leu Uncertain significance Single submitter
- A2M p.Ser616Pro Uncertain significance Single submitter
- A2M p.Ser72Arg Uncertain significance Single submitter
- A2M p.Ser831Pro Uncertain significance Single submitter
- A2M p.Thr1100Asn Uncertain significance Single submitter
- A2M p.Thr1117Pro Uncertain significance Single submitter
- A2M p.Thr1218Met Uncertain significance Single submitter
- A2M p.Thr1455Met Uncertain significance Single submitter
- A2M p.Thr220Ile Uncertain significance Single submitter
- A2M p.Thr398Ala Uncertain significance Single submitter
- A2M p.Thr411Ala Uncertain significance Single submitter
- A2M p.Thr412Ile Uncertain significance Single submitter
- A2M p.Thr447Ser Uncertain significance Single submitter
- A2M p.Thr797Ile Uncertain significance Single submitter
- A2M p.Tyr543Cys Uncertain significance Single submitter
- A2M p.Tyr649Cys Uncertain significance Single submitter
- A2M p.Val105Leu Uncertain significance Single submitter
- A2M p.Val1345Met Uncertain significance Single submitter
- A2M p.Val1381Ile Uncertain significance Single submitter
- A2M p.Val1422Met Uncertain significance Single submitter
- A2M p.Val165Ile Uncertain significance Single submitter
- A2M p.Val206Leu Uncertain significance Single submitter
- A2M p.Val207Ile Uncertain significance Single submitter
- A2M p.Val235Leu Uncertain significance Single submitter
- A2M p.Val33Ala Uncertain significance Single submitter
- A2M p.Val459Ala Uncertain significance Single submitter
- A2M p.Val751Leu Uncertain significance Single submitter
- A2M p.Val87Asp Uncertain significance Single submitter
- A2M p.Val939Met Uncertain significance Single submitter
- A2M p.Val948Phe Likely benign Single submitter
-
A2M p.Asn938Asp
Likely benign
No assertion criteria
A2M-related disorder
-
A2M p.Glu1165Gly
Likely benign
No assertion criteria
A2M-related disorder
-
A2M p.Leu18Arg
Likely benign
No assertion criteria
A2M-related disorder
All A2M variants
Benign 18
- c.2126-6_2126-2del Multiple submitters
- p.Ala844= Multiple submitters
- p.Asp277Asn Multiple submitters
- p.Ile1000Val Multiple submitters
- p.Pro261Leu Multiple submitters ⚠
- p.Val129= Multiple submitters
- p.Val437= Multiple submitters
- c.3756+4G>A Single submitter
- p.Phe385= Single submitter
- p.Tyr1152= Single submitter
- c.2125+1_2126-1del No assertion criteria A2M POLYMORPHISM
- c.2597-4T>A No assertion criteria A2M-related disorder
- p.Ala844Val No assertion criteria A2M-related disorder
- p.Arg704His No assertion criteria ALPHA-2-MACROGLOBULIN POLYMORPHISM
- p.Cys972Tyr No assertion criteria A2M POLYMORPHISM
- p.Tyr425= No assertion criteria A2M-related disorder
- p.Tyr432= No assertion criteria A2M-related disorder
- p.Val377Ile No assertion criteria A2M-related disorder
Likely benign 22
- p.Asp274= Multiple submitters
- p.Arg1031Gln Single submitter
- p.Arg645His Single submitter
- p.Arg787Gln Single submitter ⚠
- p.Leu670= Single submitter
- p.Lys382Glu Single submitter ⚠
- p.Phe1028= Single submitter
- p.Ser357Pro Single submitter
- p.Val120= Single submitter
- p.Val405Ala Single submitter
- p.Val560Ile Single submitter
- p.Val948Phe Single submitter ⚠
- c.1495-10T>C No assertion criteria A2M-related disorder
- c.3277-9T>G No assertion criteria A2M-related disorder
- p.Arg586Gln No assertion criteria A2M-related disorder
- p.Asn938Asp No assertion criteria A2M-related disorder ⚠
- p.Glu1165Gly No assertion criteria A2M-related disorder ⚠
- p.His893= No assertion criteria A2M-related disorder
- p.Leu18Arg No assertion criteria A2M-related disorder ⚠
- p.Lys502= No assertion criteria A2M-related disorder
- p.Thr548= No assertion criteria A2M-related disorder
- p.Thr813= No assertion criteria A2M-related disorder
Uncertain significance 148
- p.Ala1174Gly Single submitter ⚠
- p.Ala1219Asp Single submitter ⚠
- p.Ala1266Thr Single submitter ⚠
- p.Ala583Thr Single submitter ⚠
- p.Ala615Val Single submitter ⚠
- p.Ala981Ser Single submitter A2M-related disorder ⚠
- p.Arg1122Cys Single submitter ⚠
- p.Arg1163Thr Single submitter ⚠
- p.Arg117Leu Single submitter ⚠
- p.Arg1185His Single submitter ⚠
- p.Arg1373His Single submitter ⚠
- p.Arg174His Single submitter ⚠
- p.Arg360Ter Single submitter
- p.Arg370Cys Single submitter ⚠
- p.Arg539Gln Single submitter ⚠
- p.Arg586Gly Single submitter ⚠
- p.Arg804His Single submitter ⚠
- p.Arg823Gln Single submitter ⚠
- p.Asn1331Ser Single submitter ⚠
- p.Asn680Ser Single submitter ⚠
- p.Asn816Asp Single submitter ⚠
- p.Asn867Lys Single submitter ⚠
- p.Asp1353His Single submitter ⚠
- p.Asp427Val Single submitter ⚠
- p.Asp742Asn Single submitter ⚠
- p.Asp897Tyr Single submitter ⚠
- p.Asp988Asn Single submitter ⚠
- p.Cys1467Gly Single submitter ⚠
- p.Cys299Tyr Single submitter ⚠
- p.Gln1074Arg Single submitter ⚠
- p.Gln1277Lys Single submitter ⚠
- p.Gln208Glu Single submitter ⚠
- p.Gln368Glu Single submitter ⚠
- p.Glu1129Lys Single submitter ⚠
- p.Glu1198Val Single submitter ⚠
- p.Glu160Val Single submitter ⚠
- p.Glu230Gly Single submitter ⚠
- p.Glu245Lys Single submitter ⚠
- p.Glu401Ala Single submitter ⚠
- p.Glu42Lys Single submitter ⚠
- p.Glu640Asp Single submitter ⚠
- p.Glu640Lys Single submitter ⚠
- p.Glu764Lys Single submitter ⚠
- p.Glu80Asp Single submitter ⚠
- p.Glu881Gly Single submitter ⚠
- p.Glu929Gln Single submitter ⚠
- p.Gly1141Asp Single submitter ⚠
- p.Gly280Ser Single submitter ⚠
- p.Gly777Glu Single submitter ⚠
- p.His1259Pro Single submitter ⚠
- p.His402Arg Single submitter ⚠
- p.His445Arg Single submitter ⚠
- p.His646Arg Single submitter ⚠
- p.Ile1005Phe Single submitter ⚠
- p.Ile1005Thr Single submitter ⚠
- p.Ile1005Val Single submitter ⚠
- p.Ile1058Thr Single submitter ⚠
- p.Ile1460Thr Single submitter ⚠
- p.Ile241Val Single submitter ⚠
- p.Ile409Val Single submitter ⚠
- p.Ile552Thr Single submitter ⚠
- p.Ile762Met Single submitter ⚠
- p.Leu1109Arg Single submitter ⚠
- p.Leu1427Met Single submitter ⚠
- p.Leu164Val Single submitter ⚠
- p.Leu320Val Single submitter ⚠
- p.Leu468Ile Single submitter ⚠
- p.Leu540Trp Single submitter ⚠
- p.Lys1003Thr Single submitter ⚠
- p.Lys108Glu Single submitter ⚠
- p.Lys1162Arg Single submitter ⚠
- p.Lys1356Glu Single submitter ⚠
- p.Lys312Asn Single submitter ⚠
- p.Lys664Arg Single submitter ⚠
- p.Lys901Thr Single submitter ⚠
- p.Lys93Met Single submitter ⚠
- p.Met1385Val Single submitter ⚠
- p.Met666Thr Single submitter ⚠
- p.Phe102Leu Single submitter ⚠
- p.Phe1248Ser Single submitter ⚠
- p.Phe181Ser Single submitter ⚠
- p.Phe366Leu Single submitter ⚠
- p.Phe458Cys Single submitter ⚠
- p.Pro1349Ser Single submitter ⚠
- p.Pro218Thr Single submitter ⚠
- p.Pro259Ser Single submitter ⚠
- p.Pro36Ser Single submitter ⚠
- p.Pro454Ser Single submitter ⚠
- p.Pro536Arg Single submitter ⚠
- p.Pro579Ala Single submitter ⚠
- p.Pro591Ser Single submitter ⚠
- p.Pro623Arg Single submitter ⚠
- p.Pro726Leu Single submitter ⚠
- p.Pro862Ser Single submitter ⚠
- p.Pro937Ser Single submitter ⚠
- p.Ser1225Leu Single submitter ⚠
- p.Ser127Arg Single submitter ⚠
- p.Ser1402Ala Single submitter ⚠
- p.Ser1402Cys Single submitter ⚠
- p.Ser1411Asn Single submitter ⚠
- p.Ser180Thr Single submitter ⚠
- p.Ser614Leu Single submitter ⚠
- p.Ser616Pro Single submitter ⚠
- p.Ser668Asn Single submitter ⚠
- p.Ser72Arg Single submitter ⚠
- p.Ser831Pro Single submitter ⚠
- p.Thr1100Asn Single submitter ⚠
- p.Thr1117Pro Single submitter ⚠
- p.Thr1218Met Single submitter ⚠
- p.Thr1232Ala Single submitter ⚠
- p.Thr1347Ile Single submitter ⚠
- p.Thr1455Met Single submitter ⚠
- p.Thr220Ile Single submitter ⚠
- p.Thr398Ala Single submitter ⚠
- p.Thr411Ala Single submitter ⚠
- p.Thr412Ile Single submitter ⚠
- p.Thr447Ser Single submitter ⚠
- p.Thr486Ser Single submitter ⚠
- p.Thr654Arg Single submitter ⚠
- p.Thr797Ile Single submitter ⚠
- p.Tyr1018Cys Single submitter ⚠
- p.Tyr1323His Single submitter ⚠
- p.Tyr543Cys Single submitter ⚠
- p.Tyr649Cys Single submitter ⚠
- p.Tyr734Phe Single submitter ⚠
- p.Val105Leu Single submitter ⚠
- p.Val1235Met Single submitter ⚠
- p.Val1345Met Single submitter ⚠
- p.Val1381Ile Single submitter ⚠
- p.Val1422Met Single submitter ⚠
- p.Val149Ile Single submitter ⚠
- p.Val165Ile Single submitter ⚠
- p.Val206Leu Single submitter ⚠
- p.Val207Ile Single submitter ⚠
- p.Val235Leu Single submitter ⚠
- p.Val33Ala Single submitter ⚠
- p.Val353Leu Single submitter ⚠
- p.Val459Ala Single submitter ⚠
- p.Val587Ala Single submitter ⚠
- p.Val594Ile Single submitter ⚠
- p.Val723Ala Single submitter ⚠
- p.Val751Leu Single submitter ⚠
- p.Val794Leu Single submitter ⚠
- p.Val87Asp Single submitter ⚠
- p.Val887Ala Single submitter ⚠
- p.Val939Met Single submitter ⚠
- p.Val940Glu Single submitter ⚠
- c.2771-115C>G No assertion criteria