AKT2 — 223 ClinVar variants

All ClinVar germline AKT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 8 Conflicting · 32 Benign · 4 Benign/Likely benign · 102 Likely benign · 75 Uncertain significance

Full AKT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 74

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 33

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 40

The independent predictors disagree with each other — read with care.

All AKT2 variants

Pathogenic 1

  • p.Glu17Lys Single submitter type 2 diabetes mellitus

Likely pathogenic 1

  • p.Arg274His Single submitter type 2 diabetes mellitus

Conflicting classifications of pathogenicity 8

  • c.831+4A>G Single submitter type 2 diabetes mellitus
  • p.Arg208Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg467Trp Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy ⚠
  • p.Asn71Ser Single submitter type 2 diabetes mellitus ⚠
  • p.Asp416Asn Single submitter type 2 diabetes mellitus ⚠
  • p.Glu315= Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.Gly116Ala Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy ⚠
  • p.Pro68= Single submitter type 2 diabetes mellitus

Benign 32

Benign/Likely benign 4

  • c.1366+20G>A Multiple submitters type 2 diabetes mellitus
  • c.*9C>T Multiple submitters
  • p.Pro370= Multiple submitters hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.Ser31= Multiple submitters hypoinsulinemic hypoglycemia and body hemihypertrophy

Likely benign 102

  • c.1367-7C>T Multiple submitters type 2 diabetes mellitus
  • c.442-8C>T Multiple submitters hypoinsulinemic hypoglycemia and body hemihypertrophy
  • c.960+3G>A Multiple submitters hypoinsulinemic hypoglycemia and body hemihypertrophy
  • c.961-13C>T Multiple submitters hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.Asp94= Multiple submitters hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.Thr199= Multiple submitters type 2 diabetes mellitus
  • p.Val106= Multiple submitters hypoinsulinemic hypoglycemia and body hemihypertrophy
  • c.1175+13G>A Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • c.1176-10C>G Single submitter type 2 diabetes mellitus
  • c.1176-12G>A Single submitter type 2 diabetes mellitus
  • c.1264-4G>A Single submitter type 2 diabetes mellitus
  • c.1264-4G>T Single submitter type 2 diabetes mellitus
  • c.1264-5C>T Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • c.1366+106A>G Single submitter
  • c.1366+19C>T Single submitter type 2 diabetes mellitus
  • c.176-9T>C Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • c.288-14G>T Single submitter type 2 diabetes mellitus
  • c.288-17C>T Single submitter type 2 diabetes mellitus
  • c.288-6G>C Single submitter type 2 diabetes mellitus
  • c.288-8C>T Single submitter type 2 diabetes mellitus
  • c.442-12T>C Single submitter type 2 diabetes mellitus
  • c.442-18T>C Single submitter type 2 diabetes mellitus
  • c.442-9C>A Single submitter
  • c.46+10C>T Single submitter type 2 diabetes mellitus
  • c.46+19C>T Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • c.46+20C>T Single submitter type 2 diabetes mellitus
  • c.573+8C>T Single submitter type 2 diabetes mellitus
  • c.574-15G>A Single submitter type 2 diabetes mellitus
  • c.574-16C>G Single submitter type 2 diabetes mellitus
  • c.574-16C>T Single submitter type 2 diabetes mellitus
  • c.639+11C>G Single submitter type 2 diabetes mellitus
  • c.640-20C>T Single submitter type 2 diabetes mellitus
  • c.708+10G>A Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • c.708+15C>T Single submitter type 2 diabetes mellitus
  • c.708+19_708+20insGCGGCTGCCTTGGCT Single submitter type 2 diabetes mellitus
  • c.708+8G>A Single submitter type 2 diabetes mellitus
  • c.708+9C>T Single submitter type 2 diabetes mellitus
  • c.709-11T>A Single submitter type 2 diabetes mellitus
  • c.709-9C>T Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • c.831+10A>G Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • c.832-13A>T Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • c.832-17G>A Single submitter type 2 diabetes mellitus
  • c.832-7C>T Single submitter type 2 diabetes mellitus
  • c.960+20G>T Single submitter type 2 diabetes mellitus
  • p.Ala139= Single submitter
  • p.Ala139Val Single submitter type 2 diabetes mellitus
  • p.Ala190= Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.Ala330= Single submitter type 2 diabetes mellitus
  • p.Ala44= Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.Ala58Val Single submitter type 2 diabetes mellitus ⚠
  • p.Arg144Trp Single submitter type 2 diabetes mellitus ⚠
  • p.Arg176His Single submitter ⚠
  • p.Arg253Trp Single submitter type 2 diabetes mellitus
  • p.Arg274= Single submitter type 2 diabetes mellitus
  • p.Arg357Cys Single submitter type 2 diabetes mellitus ⚠
  • p.Arg437= Single submitter type 2 diabetes mellitus
  • p.Arg480Cys Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.Asn233= Single submitter type 2 diabetes mellitus
  • p.Asp129= Single submitter type 2 diabetes mellitus
  • p.Asp153= Single submitter
  • p.Asp32= Single submitter
  • p.Cys345= Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.Glu264= Single submitter type 2 diabetes mellitus
  • p.Glu356= Single submitter type 2 diabetes mellitus
  • p.Gly175= Single submitter type 2 diabetes mellitus
  • p.His13= Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.His355= Single submitter type 2 diabetes mellitus
  • p.His89= Single submitter type 2 diabetes mellitus
  • p.Ile276= Single submitter
  • p.Ile412Leu Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.Leu237= Single submitter Inborn genetic diseases
  • p.Leu336= Single submitter type 2 diabetes mellitus
  • p.Leu348= Single submitter
  • p.Leu380= Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.Lys123= Single submitter
  • p.Lys146= Single submitter type 2 diabetes mellitus
  • p.Lys172= Single submitter
  • p.Lys285= Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.Met344Ile Single submitter type 2 diabetes mellitus ⚠
  • p.Phe219= Single submitter
  • p.Phe409= Single submitter type 2 diabetes mellitus
  • p.Pro375= Single submitter type 2 diabetes mellitus
  • p.Pro397fs Single submitter type 2 diabetes mellitus
  • p.Pro42= Single submitter type 2 diabetes mellitus
  • p.Pro471= Single submitter type 2 diabetes mellitus
  • p.Ser109= Single submitter type 2 diabetes mellitus
  • p.Ser268= Single submitter type 2 diabetes mellitus
  • p.Ser476= Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.Ser56= Single submitter type 2 diabetes mellitus
  • p.Thr132= Single submitter
  • p.Thr132Met Single submitter type 2 diabetes mellitus ⚠
  • p.Thr133= Single submitter type 2 diabetes mellitus
  • p.Thr444= Single submitter
  • p.Thr72= Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.Tyr231= Single submitter type 2 diabetes mellitus
  • p.Tyr341= Single submitter hypoinsulinemic hypoglycemia and body hemihypertrophy
  • p.Val194= Single submitter type 2 diabetes mellitus
  • p.Val434= Single submitter type 2 diabetes mellitus
  • c.1367-9C>T No assertion criteria AKT2-related disorder
  • c.*4G>C No assertion criteria AKT2-related disorder
  • p.Lys427= No assertion criteria AKT2-related disorder
  • p.Thr162= No assertion criteria AKT2-related disorder

Uncertain significance 75