CAP2 — 77 ClinVar variants
All ClinVar germline CAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 1 Benign · 3 Likely benign · 69 Uncertain significance
Full CAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAP2 p.His203Arg Uncertain significance Multiple submitters
- CAP2 p.Ala162Thr Uncertain significance Single submitter
- CAP2 p.Ala262Pro Uncertain significance Single submitter
- CAP2 p.Ala272Thr Uncertain significance Single submitter
- CAP2 p.Ala294Thr Uncertain significance Single submitter
- CAP2 p.Ala435Thr Uncertain significance Single submitter
- CAP2 p.Ala477Val Uncertain significance Single submitter
- CAP2 p.Arg125Trp Uncertain significance Single submitter
- CAP2 p.Arg180Pro Uncertain significance Single submitter
- CAP2 p.Arg278Cys Uncertain significance Single submitter
- CAP2 p.Asp426Gly Uncertain significance Single submitter
- CAP2 p.Cys378Gly Uncertain significance Single submitter
- CAP2 p.Gln458Arg Uncertain significance Single submitter
- CAP2 p.Glu12Lys Uncertain significance Single submitter
- CAP2 p.Glu360Gln Uncertain significance Single submitter
- CAP2 p.Glu360Lys Uncertain significance Single submitter
- CAP2 p.Glu457Gly Uncertain significance Single submitter
- CAP2 p.Glu59Lys Uncertain significance Single submitter
- CAP2 p.Gly251Ser Uncertain significance Single submitter
- CAP2 p.Gly33Arg Uncertain significance Single submitter
- CAP2 p.Ile117Asn Uncertain significance Single submitter
- CAP2 p.Ile199Val Uncertain significance Single submitter
- CAP2 p.Lys200Glu Uncertain significance Single submitter
- CAP2 p.Met440Thr Uncertain significance Single submitter
- CAP2 p.Met4Val Uncertain significance Single submitter
- CAP2 p.Met53Ile Uncertain significance Single submitter
- CAP2 p.Met91Val Uncertain significance Single submitter
- CAP2 p.Phe357Leu Uncertain significance Single submitter
-
CAP2 p.Pro29His
Uncertain significance
Single submitter
CAP2-associated dilated cardiomyopathy
- CAP2 p.Ser134Leu Uncertain significance Single submitter
- CAP2 p.Thr281Pro Uncertain significance Single submitter
- CAP2 p.Val103Met Uncertain significance Single submitter
- CAP2 p.Val136Ile Uncertain significance Single submitter
- CAP2 p.Val148Ala Uncertain significance Single submitter
- CAP2 p.Val170Ile Uncertain significance Single submitter
- CAP2 p.Val219Ile Uncertain significance Single submitter
- CAP2 p.Val42Met Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
-
CAP2 p.Arg17His
Uncertain significance
Multiple submitters
cardiomyopathy, dilated, 2I
- CAP2 p.Ala48Gly Uncertain significance Single submitter
-
CAP2 p.Arg13Gln
Uncertain significance
Single submitter
cardiomyopathy, dilated, 2I
- CAP2 p.Arg17Leu Uncertain significance Single submitter
- CAP2 p.Arg180Cys Uncertain significance Single submitter
- CAP2 p.Arg260Cys Uncertain significance Single submitter
- CAP2 p.Asp183His Uncertain significance Single submitter
- CAP2 p.Gln365Arg Uncertain significance Single submitter
- CAP2 p.Glu248Lys Uncertain significance Single submitter
- CAP2 p.Glu328Gly Uncertain significance Single submitter
- CAP2 p.Glu417Gly Uncertain significance Single submitter
- CAP2 p.Glu9Val Uncertain significance Single submitter
- CAP2 p.Gly37Asp Uncertain significance Single submitter
- CAP2 p.His176Tyr Uncertain significance Single submitter
- CAP2 p.His306Tyr Uncertain significance Single submitter
- CAP2 p.Ile364Thr Uncertain significance Single submitter
- CAP2 p.Leu52Pro Uncertain significance Single submitter
- CAP2 p.Lys285Met Uncertain significance Single submitter
- CAP2 p.Met440Val Uncertain significance Single submitter
- CAP2 p.Pro235Ala Uncertain significance Single submitter
- CAP2 p.Ser149Phe Uncertain significance Single submitter
- CAP2 p.Ser55Asn Uncertain significance Single submitter
- CAP2 p.Thr205Met Uncertain significance Single submitter
- CAP2 p.Thr348Ser Uncertain significance Single submitter
- CAP2 p.Thr410Ala Uncertain significance Single submitter
- CAP2 p.Thr73Ile Uncertain significance Single submitter
- CAP2 p.Val148Leu Uncertain significance Single submitter
- CAP2 p.Val433Leu Uncertain significance Single submitter
- CAP2 p.Val46Leu Uncertain significance Single submitter
- CAP2 p.Val71Leu Uncertain significance Single submitter
All CAP2 variants
Pathogenic 3
- c.636+1G>A No assertion criteria cardiomyopathy, dilated, 2I
- p.Cys430fs No assertion criteria cardiomyopathy, dilated, 2I
- p.Tyr316Ter No assertion criteria cardiomyopathy, dilated, 2I
Likely pathogenic 1
- p.Ser291fs Single submitter cardiomyopathy, dilated, 2I
Benign 1
- p.Lys379= Single submitter
Likely benign 3
- p.Leu325Phe Single submitter
- p.Ser20Leu Single submitter
- p.Tyr316His Single submitter
Uncertain significance 69
- p.Arg17His Multiple submitters cardiomyopathy, dilated, 2I ⚠
- p.His203Arg Multiple submitters ⚠
- c.1003-5T>G Single submitter
- p.Ala162Thr Single submitter ⚠
- p.Ala262Pro Single submitter ⚠
- p.Ala272Thr Single submitter ⚠
- p.Ala294Thr Single submitter ⚠
- p.Ala435Thr Single submitter ⚠
- p.Ala477Val Single submitter ⚠
- p.Ala48Gly Single submitter ⚠
- p.Arg125Trp Single submitter ⚠
- p.Arg13Gln Single submitter cardiomyopathy, dilated, 2I ⚠
- p.Arg17Leu Single submitter ⚠
- p.Arg180Cys Single submitter ⚠
- p.Arg180Pro Single submitter ⚠
- p.Arg260Cys Single submitter ⚠
- p.Arg278Cys Single submitter ⚠
- p.Asp183His Single submitter ⚠
- p.Asp426Gly Single submitter ⚠
- p.Cys378Gly Single submitter ⚠
- p.Gln365Arg Single submitter ⚠
- p.Gln458Arg Single submitter ⚠
- p.Glu12Lys Single submitter ⚠
- p.Glu248Lys Single submitter ⚠
- p.Glu328Gly Single submitter ⚠
- p.Glu360Gln Single submitter ⚠
- p.Glu360Lys Single submitter ⚠
- p.Glu417Gly Single submitter ⚠
- p.Glu457Gly Single submitter ⚠
- p.Glu59Lys Single submitter ⚠
- p.Glu9Val Single submitter ⚠
- p.Gly251Ser Single submitter ⚠
- p.Gly33Arg Single submitter ⚠
- p.Gly37Asp Single submitter ⚠
- p.His176Tyr Single submitter ⚠
- p.His306Tyr Single submitter ⚠
- p.Ile117Asn Single submitter ⚠
- p.Ile199Val Single submitter ⚠
- p.Ile364Thr Single submitter ⚠
- p.Leu52Pro Single submitter ⚠
- p.Lys200Glu Single submitter ⚠
- p.Lys285Met Single submitter ⚠
- p.Met1Thr Single submitter cardiomyopathy, dilated, 2I
- p.Met440Thr Single submitter ⚠
- p.Met440Val Single submitter ⚠
- p.Met4Val Single submitter ⚠
- p.Met53Ile Single submitter ⚠
- p.Met91Val Single submitter ⚠
- p.Phe357Leu Single submitter ⚠
- p.Pro235Ala Single submitter ⚠
- p.Pro29His Single submitter CAP2-associated dilated cardiomyopathy ⚠
- p.Ser134Leu Single submitter ⚠
- p.Ser149Phe Single submitter ⚠
- p.Ser55Asn Single submitter ⚠
- p.Thr205Met Single submitter ⚠
- p.Thr281Pro Single submitter ⚠
- p.Thr348Ser Single submitter ⚠
- p.Thr410Ala Single submitter ⚠
- p.Thr73Ile Single submitter ⚠
- p.Val103Met Single submitter ⚠
- p.Val136Ile Single submitter ⚠
- p.Val148Ala Single submitter ⚠
- p.Val148Leu Single submitter ⚠
- p.Val170Ile Single submitter ⚠
- p.Val219Ile Single submitter ⚠
- p.Val42Met Single submitter ⚠
- p.Val433Leu Single submitter ⚠
- p.Val46Leu Single submitter ⚠
- p.Val71Leu Single submitter ⚠