Sugi Variant

Sugi Variant/ADGRG2

ADGRG2 — 133 ClinVar variants

All ClinVar germline ADGRG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 91 flagged for review →

10 Pathogenic · 1 Likely pathogenic · 3 Conflicting · 5 Benign · 24 Likely benign · 90 Uncertain significance

Full ADGRG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 91

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 3

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

Predictors lean, ClinVar uncertain 76

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

Predictors split 12

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

All ADGRG2 variants

Pathogenic 10

  • c.1731_1839+373del Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
  • p.Arg825Ter Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
  • p.Cys949fs Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
  • p.Glu516Ter Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
  • p.Gly487fs Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
  • p.Leu668fs Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
  • p.Phe700fs Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
  • p.Pro338fs Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
  • p.Ser84Ter Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
  • p.Val678fs Single submitter Obstructive azoospermia

Likely pathogenic 1

  • p.Phe122fs No assertion criteria vas deferens, congenital bilateral aplasia of, X-linked

Conflicting classifications of pathogenicity 3

  • p.Arg892Gln Single submitter Inborn genetic diseases ⚠
  • p.Leu19Pro Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
  • p.Thr148Ile Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation ⚠

Benign 5

Likely benign 24

Uncertain significance 90