Sugi Variant

Sugi Variant/POMC

POMC — 187 ClinVar variants

All ClinVar germline POMC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →

13 Pathogenic · 4 Likely pathogenic · 10 Conflicting · 6 Benign · 4 Benign/Likely benign · 35 Likely benign · 115 Uncertain significance

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

⚑ Evidence disagreements 86

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 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, 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.

Predictors split 15

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

All POMC variants

Pathogenic 13

  • c.-11C>A Multiple submitters obesity due to pro-opiomelanocortin deficiency
  • c.132+1G>A Single submitter obesity due to pro-opiomelanocortin deficiency
  • c.133-2A>C Single submitter obesity due to pro-opiomelanocortin deficiency
  • c.20_21ins25 Single submitter Inborn genetic diseases
  • p.Cys28Ter Single submitter obesity due to pro-opiomelanocortin deficiency
  • p.Leu12fs Single submitter
  • p.Leu16fs Single submitter
  • p.Lys76fs Single submitter
  • p.Trp84Ter Single submitter
  • p.Tyr139Ter Single submitter obesity due to pro-opiomelanocortin deficiency
  • p.Arg145fs No assertion criteria obesity due to pro-opiomelanocortin deficiency
  • p.Glu105Ter No assertion criteria obesity due to pro-opiomelanocortin deficiency
  • p.Lys136fs No assertion criteria obesity due to pro-opiomelanocortin deficiency

Likely pathogenic 4

  • p.Arg145Leu Single submitter Early onset severe obesity
  • p.Gln19Ter Single submitter
  • p.Glu72Ter Single submitter Early onset severe obesity
  • p.Tyr77Ter Single submitter obesity due to pro-opiomelanocortin deficiency

Conflicting classifications of pathogenicity 10

  • p.Ala195Thr Single submitter obesity due to pro-opiomelanocortin deficiency ⚠
  • p.Arg236Gly Single submitter obesity due to pro-opiomelanocortin deficiency ⚠
  • p.Asp166= Single submitter obesity due to pro-opiomelanocortin deficiency
  • p.Cys6= Single submitter obesity due to pro-opiomelanocortin deficiency
  • p.Glu214Gly Single submitter obesity disorder ⚠
  • p.Phe87Leu Single submitter obesity due to pro-opiomelanocortin deficiency ⚠
  • p.Pro132Ala Single submitter Early onset severe obesity ⚠
  • p.Ser7fs Single submitter Inborn genetic diseases
  • p.Thr39= Single submitter POMC-related disorder
  • p.Tyr221Cys Single submitter obesity disorder ⚠

Benign 6

Benign/Likely benign 4

  • p.94SSG[3] Multiple submitters
  • p.Ala195= Multiple submitters obesity due to pro-opiomelanocortin deficiency
  • p.Leu116= Multiple submitters obesity disorder
  • p.Ser94= Multiple submitters obesity due to pro-opiomelanocortin deficiency

Likely benign 35

  • p.Glu206= Multiple submitters
  • p.Ala164= Single submitter
  • p.Asp197= Single submitter
  • p.Cys113= Single submitter
  • p.Glu175= Single submitter
  • p.Gly266= Single submitter
  • p.His143Tyr Single submitter
  • p.Pro231= Single submitter
  • p.Pro232= Single submitter
  • p.Ser95= Single submitter
  • p.Val78= Single submitter
  • c.132+4C>T No assertion criteria POMC-related disorder
  • c.*10G>T No assertion criteria POMC-related disorder
  • c.*2G>A No assertion criteria POMC-related disorder
  • p.Ala109= No assertion criteria POMC-related disorder
  • p.Arg104= No assertion criteria POMC-related disorder
  • p.Arg154= No assertion criteria POMC-related disorder
  • p.Arg178= No assertion criteria POMC-related disorder
  • p.Asp106= No assertion criteria POMC-related disorder
  • p.Gly119= No assertion criteria POMC-related disorder
  • p.His143= No assertion criteria POMC-related disorder
  • p.His225= No assertion criteria POMC-related disorder
  • p.Leu17= No assertion criteria POMC-related disorder
  • p.Leu37= No assertion criteria POMC-related disorder
  • p.Leu43= No assertion criteria POMC-related disorder
  • p.Phe172= No assertion criteria POMC-related disorder
  • p.Ser168= No assertion criteria POMC-related disorder
  • p.Ser243= No assertion criteria POMC-related disorder
  • p.Ser4= No assertion criteria POMC-related disorder
  • p.Ser9= No assertion criteria POMC-related disorder
  • p.Ser92= No assertion criteria POMC-related disorder
  • p.Thr252= No assertion criteria POMC-related disorder
  • p.Tyr221= No assertion criteria POMC-related disorder
  • p.Tyr77= No assertion criteria POMC-related disorder
  • p.Val107= No assertion criteria POMC-related disorder

Uncertain significance 115