MAP3K3 — 103 ClinVar variants
All ClinVar germline MAP3K3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
1 Pathogenic/Likely pathogenic · 17 Benign · 2 Likely benign · 83 Uncertain significance
Full MAP3K3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MAP3K3 p.His133Tyr
Uncertain significance
Multiple submitters
cerebral cavernous malformations 5
-
MAP3K3 p.Met524Val
Uncertain significance
Multiple submitters
cerebral cavernous malformations 5
- MAP3K3 p.Ala148Ser Uncertain significance Single submitter
- MAP3K3 p.Ala148Thr Uncertain significance Single submitter
- MAP3K3 p.Arg241Trp Uncertain significance Single submitter
- MAP3K3 p.Arg244Gln Uncertain significance Single submitter
- MAP3K3 p.Arg247His Uncertain significance Single submitter
- MAP3K3 p.Arg277Trp Uncertain significance Single submitter
- MAP3K3 p.Arg278His Uncertain significance Single submitter
- MAP3K3 p.Arg299Trp Uncertain significance Single submitter
- MAP3K3 p.Arg300His Uncertain significance Single submitter
- MAP3K3 p.Arg332Cys Uncertain significance Single submitter
- MAP3K3 p.Arg334Gly Uncertain significance Single submitter
- MAP3K3 p.Arg336Trp Uncertain significance Single submitter
- MAP3K3 p.Arg364Gln Uncertain significance Single submitter
- MAP3K3 p.Arg434His Uncertain significance Single submitter
- MAP3K3 p.Arg488Gln Uncertain significance Single submitter
- MAP3K3 p.Arg488Trp Uncertain significance Single submitter
- MAP3K3 p.Asn128His Uncertain significance Single submitter
- MAP3K3 p.Asn152Ser Uncertain significance Single submitter
- MAP3K3 p.Asn152Tyr Uncertain significance Single submitter
- MAP3K3 p.Asn350Ser Uncertain significance Single submitter
- MAP3K3 p.Asn40His Uncertain significance Single submitter
- MAP3K3 p.Asp105Gly Uncertain significance Single submitter
- MAP3K3 p.Asp253Gly Uncertain significance Single submitter
- MAP3K3 p.Asp260Gly Uncertain significance Single submitter
- MAP3K3 p.Asp433Val Uncertain significance Single submitter
- MAP3K3 p.Asp82Glu Uncertain significance Single submitter
- MAP3K3 p.Gln211His Uncertain significance Single submitter
- MAP3K3 p.Gln587His Uncertain significance Single submitter
- MAP3K3 p.Glu159Lys Uncertain significance Single submitter
- MAP3K3 p.Glu320Asp Uncertain significance Single submitter
- MAP3K3 p.Glu320Lys Uncertain significance Single submitter
- MAP3K3 p.Glu67Ala Uncertain significance Single submitter
- MAP3K3 p.Gly323Asp Uncertain significance Single submitter
- MAP3K3 p.Gly371Asp Uncertain significance Single submitter
- MAP3K3 p.Gly374Ser Uncertain significance Single submitter
- MAP3K3 p.Gly449Arg Uncertain significance Single submitter
- MAP3K3 p.Ile118Leu Uncertain significance Single submitter
- MAP3K3 p.Leu165Arg Uncertain significance Single submitter
- MAP3K3 p.Lys268Arg Uncertain significance Single submitter
-
MAP3K3 p.Lys391Arg
Uncertain significance
Single submitter
cerebral cavernous malformations 5
- MAP3K3 p.Lys456Arg Uncertain significance Single submitter
- MAP3K3 p.Met213Ile Uncertain significance Single submitter
-
MAP3K3 p.Met31Val
Uncertain significance
Single submitter
cerebral cavernous malformations 5
- MAP3K3 p.Met322Ile Uncertain significance Single submitter
- MAP3K3 p.Met477Ile Uncertain significance Single submitter
- MAP3K3 p.Pro157Leu Uncertain significance Single submitter
- MAP3K3 p.Pro172Ala Uncertain significance Single submitter
- MAP3K3 p.Pro172Leu Uncertain significance Single submitter
- MAP3K3 p.Ser239Pro Uncertain significance Single submitter
- MAP3K3 p.Ser340Gly Uncertain significance Single submitter
- MAP3K3 p.Thr438Asn Uncertain significance Single submitter
-
MAP3K3 p.Thr438Ser
Uncertain significance
Single submitter
cerebral cavernous malformations 5
- MAP3K3 p.Tyr266Cys Uncertain significance Single submitter
- MAP3K3 p.Tyr28Cys Uncertain significance Single submitter
- MAP3K3 p.Val309Leu Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- MAP3K3 p.Arg277Gln Uncertain significance Single submitter
- MAP3K3 p.Arg313Leu Uncertain significance Single submitter
- MAP3K3 p.Arg525Cys Uncertain significance Single submitter
-
MAP3K3 p.Gln392His
Uncertain significance
Single submitter
cerebral cavernous malformations 5
- MAP3K3 p.Glu401Lys Uncertain significance Single submitter
- MAP3K3 p.Gly272Asp Uncertain significance Single submitter
- MAP3K3 p.Gly53Arg Uncertain significance Single submitter
- MAP3K3 p.Ile104Thr Uncertain significance Single submitter
- MAP3K3 p.Met519Ile Uncertain significance Single submitter
- MAP3K3 p.Ser403Asn Uncertain significance Single submitter
-
MAP3K3 p.Val64Met
Uncertain significance
Single submitter
cerebral cavernous malformations 5
-
MAP3K3 p.Gly273Arg
Uncertain significance
No assertion criteria
MAP3K3-related disorder
All MAP3K3 variants
Pathogenic/Likely pathogenic 1
- p.Ile441Met Multiple submitters verrucous hemangioma
Benign 17
- c.126+67G>T Multiple submitters
- c.1475-146T>C Multiple submitters
- c.168-35A>G Multiple submitters
- c.268-98T>C Multiple submitters
- c.382-260A>G Multiple submitters
- c.5-31G>A Multiple submitters
- c.710+235T>C Multiple submitters
- c.710+81G>C Multiple submitters
- c.871+216T>G Multiple submitters
- c.872-24C>A Multiple submitters
- p.Ser311= Multiple submitters
- p.Ser520= Multiple submitters
- c.127-256_127-247del Single submitter
- c.381+66C>T Single submitter
- c.710+258A>G Single submitter
- c.711-212T>C Single submitter
- p.Val281Met Single submitter
Likely benign 2
- c.1213-91G>T Single submitter
- p.Pro238= No assertion criteria MAP3K3-related disorder
Uncertain significance 83
- p.His133Tyr Multiple submitters cerebral cavernous malformations 5 ⚠
- p.Met524Val Multiple submitters cerebral cavernous malformations 5 ⚠
- c.126+1922A>G Single submitter
- c.126+1932C>G Single submitter
- c.126+1940A>C Single submitter
- c.126+1944G>A Single submitter
- c.126+1967T>C Single submitter
- c.126+1976G>A Single submitter
- c.126+1976G>T Single submitter
- c.126+1990G>T Single submitter
- p.Ala148Ser Single submitter ⚠
- p.Ala148Thr Single submitter ⚠
- p.Arg141Trp Single submitter
- p.Arg241Trp Single submitter ⚠
- p.Arg244Gln Single submitter ⚠
- p.Arg247His Single submitter ⚠
- p.Arg277Gln Single submitter ⚠
- p.Arg277Trp Single submitter ⚠
- p.Arg278His Single submitter ⚠
- p.Arg297Ter Single submitter
- p.Arg299Trp Single submitter ⚠
- p.Arg300His Single submitter ⚠
- p.Arg313Cys Single submitter cerebral cavernous malformations 5
- p.Arg313Leu Single submitter ⚠
- p.Arg332Cys Single submitter ⚠
- p.Arg334Gly Single submitter ⚠
- p.Arg336Trp Single submitter ⚠
- p.Arg364Gln Single submitter ⚠
- p.Arg375Ser Single submitter
- p.Arg434His Single submitter ⚠
- p.Arg488Gln Single submitter ⚠
- p.Arg488Trp Single submitter ⚠
- p.Arg525Cys Single submitter ⚠
- p.Asn128His Single submitter ⚠
- p.Asn152Ser Single submitter ⚠
- p.Asn152Tyr Single submitter ⚠
- p.Asn20_Arg21insLeuAsnSerIleMetAsnAspLeuValAlaLeuGlnMetAsn Single submitter
- p.Asn350Ser Single submitter ⚠
- p.Asn40His Single submitter ⚠
- p.Asp105Gly Single submitter ⚠
- p.Asp105His Single submitter
- p.Asp253Gly Single submitter ⚠
- p.Asp260Gly Single submitter ⚠
- p.Asp433Val Single submitter ⚠
- p.Asp82Glu Single submitter ⚠
- p.Gln211His Single submitter ⚠
- p.Gln392His Single submitter cerebral cavernous malformations 5 ⚠
- p.Gln587His Single submitter ⚠
- p.Glu159Lys Single submitter ⚠
- p.Glu320Asp Single submitter ⚠
- p.Glu320Lys Single submitter ⚠
- p.Glu401Lys Single submitter ⚠
- p.Glu67Ala Single submitter ⚠
- p.Gly272Asp Single submitter ⚠
- p.Gly323Asp Single submitter ⚠
- p.Gly371Asp Single submitter ⚠
- p.Gly374Ser Single submitter ⚠
- p.Gly449Arg Single submitter ⚠
- p.Gly53Arg Single submitter ⚠
- p.Ile104Thr Single submitter ⚠
- p.Ile118Leu Single submitter ⚠
- p.Leu165Arg Single submitter ⚠
- p.Lys268Arg Single submitter ⚠
- p.Lys391Arg Single submitter cerebral cavernous malformations 5 ⚠
- p.Lys456Arg Single submitter ⚠
- p.Met213Ile Single submitter ⚠
- p.Met31Val Single submitter cerebral cavernous malformations 5 ⚠
- p.Met322Ile Single submitter ⚠
- p.Met477Ile Single submitter ⚠
- p.Met519Ile Single submitter ⚠
- p.Pro157Leu Single submitter ⚠
- p.Pro172Ala Single submitter ⚠
- p.Pro172Leu Single submitter ⚠
- p.Ser239Pro Single submitter ⚠
- p.Ser340Gly Single submitter ⚠
- p.Ser403Asn Single submitter ⚠
- p.Thr438Asn Single submitter ⚠
- p.Thr438Ser Single submitter cerebral cavernous malformations 5 ⚠
- p.Tyr266Cys Single submitter ⚠
- p.Tyr28Cys Single submitter ⚠
- p.Val309Leu Single submitter ⚠
- p.Val64Met Single submitter cerebral cavernous malformations 5 ⚠
- p.Gly273Arg No assertion criteria MAP3K3-related disorder ⚠