PRKACB — 61 ClinVar variants
All ClinVar germline PRKACB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
5 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 1 Benign · 10 Likely benign · 43 Uncertain significance
Full PRKACB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRKACB p.Ala68Thr Uncertain significance Single submitter
-
PRKACB p.Asp214His
Uncertain significance
Single submitter
cardioacrofacial dysplasia 2
-
PRKACB p.Gln115His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKACB p.Glu251Gly
Uncertain significance
Single submitter
cardioacrofacial dysplasia 2
- PRKACB p.Glu278Lys Uncertain significance Single submitter
-
PRKACB p.Glu394Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKACB p.Gly87Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKACB p.Ile183Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKACB p.Ile339Thr
Uncertain significance
Single submitter
cardioacrofacial dysplasia 2
-
PRKACB p.Ile353Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKACB p.Leu200Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKACB p.Leu253Trp
Uncertain significance
Single submitter
cardioacrofacial dysplasia 2
-
PRKACB p.Lys95Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKACB p.Thr326Ile Uncertain significance Single submitter
- PRKACB p.Thr82Ile Uncertain significance Single submitter
- PRKACB p.Thr96Asn Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
-
PRKACB p.Arg318Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKACB p.Arg384His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKACB p.Gln125Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKACB p.Glu79Gly Uncertain significance Single submitter
- PRKACB p.Lys131Asn Uncertain significance Single submitter
All PRKACB variants
Pathogenic 5
- p.His135Leu Single submitter cardioacrofacial dysplasia 2
- p.Gly282Arg No assertion criteria cardioacrofacial dysplasia 2
- p.His135Arg No assertion criteria cardioacrofacial dysplasia 2
- p.His135Asn No assertion criteria cardioacrofacial dysplasia 2
- p.Ser101Leu No assertion criteria cardioacrofacial dysplasia 2
Likely pathogenic 1
- p.Lys333Glu Single submitter cardioacrofacial dysplasia 2
Conflicting classifications of pathogenicity 1
- p.Glu381del Single submitter
Benign 1
- c.378+7G>T Single submitter
Likely benign 10
- c.188-4110A>G Single submitter
- c.188-4150C>T Single submitter
- c.188-5844C>G Single submitter
- c.250-472G>A Single submitter
- c.783+1293AT[10] Single submitter
- c.783+1293AT[6] Single submitter
- p.Ser311= Single submitter
- p.Thr347Met Single submitter
- p.Thr37Ile Single submitter
- p.Val167= Single submitter
Uncertain significance 43
- c.1072-4A>G Single submitter cardioacrofacial dysplasia 2
- c.250-508_250-505dup Single submitter cardioacrofacial dysplasia 2
- c.250-518_250-510del Single submitter
- c.784-19T>A Single submitter
- c.-1A>C Single submitter
- p.Ala57Val Single submitter Inborn genetic diseases
- p.Ala68Thr Single submitter ⚠
- p.Arg28Gln Single submitter Inborn genetic diseases
- p.Arg318Gln Single submitter Inborn genetic diseases ⚠
- p.Arg384His Single submitter Inborn genetic diseases ⚠
- p.Arg61Lys Single submitter Inborn genetic diseases
- p.Asp214His Single submitter cardioacrofacial dysplasia 2 ⚠
- p.Asp40Asn Single submitter Inborn genetic diseases
- p.Asp40Glu Single submitter Inborn genetic diseases
- p.Asp60Glu Single submitter PRKACB-related disorder
- p.Cys9Tyr Single submitter Inborn genetic diseases
- p.Gln115His Single submitter Inborn genetic diseases ⚠
- p.Gln125Arg Single submitter Inborn genetic diseases ⚠
- p.Glu23Lys Single submitter
- p.Glu251Gly Single submitter cardioacrofacial dysplasia 2 ⚠
- p.Glu278Lys Single submitter ⚠
- p.Glu394Asp Single submitter Inborn genetic diseases ⚠
- p.Glu46Lys Single submitter Inborn genetic diseases
- p.Glu79Gly Single submitter ⚠
- p.Gly14Arg Single submitter Inborn genetic diseases
- p.Gly87Arg Single submitter Inborn genetic diseases ⚠
- p.His55Arg Single submitter Inborn genetic diseases
- p.Ile183Met Single submitter Inborn genetic diseases ⚠
- p.Ile339Thr Single submitter cardioacrofacial dysplasia 2 ⚠
- p.Ile353Val Single submitter Inborn genetic diseases ⚠
- p.Leu164Val Single submitter Inborn genetic diseases
- p.Leu200Pro Single submitter Inborn genetic diseases ⚠
- p.Leu253Trp Single submitter cardioacrofacial dysplasia 2 ⚠
- p.Leu317Val Single submitter cardioacrofacial dysplasia 2
- p.Lys131Asn Single submitter ⚠
- p.Lys95Glu Single submitter Inborn genetic diseases ⚠
- p.Thr326Ile Single submitter ⚠
- p.Thr388Lys Single submitter
- p.Thr82Ile Single submitter ⚠
- p.Thr96Asn Single submitter ⚠
- p.Tyr12Cys Single submitter Inborn genetic diseases
- c.188-14760G>A No assertion criteria PRKACB-related disorder
- c.188-4120G>A No assertion criteria PRKACB-related disorder