Sugi Variant

Sugi Variant/PROKR2

PROKR2 — 249 ClinVar variants

All ClinVar germline PROKR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 148 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 27 Conflicting · 19 Benign · 4 Benign/Likely benign · 46 Likely benign · 140 Uncertain significance

Full PROKR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 148

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 16

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

Predictors lean, ClinVar uncertain 97

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

Predictors split 34

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

All PROKR2 variants

Pathogenic 4

Pathogenic/Likely pathogenic 1

  • p.His20fs Multiple submitters PROKR2-related disorder

Likely pathogenic 8

  • p.Arg164Gln Multiple submitters hypogonadotropic hypogonadism 3 with or without anosmia
  • p.Glu231Lys Multiple submitters hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Tyr316Ter Multiple submitters hypogonadotropic hypogonadism 3 with or without anosmia
  • p.Asn338fs Single submitter hypogonadotropic hypogonadism 3 with or without anosmia
  • p.Asp299Val Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Cys67Ter Single submitter hypogonadotropic hypogonadism 3 with or without anosmia
  • p.Phe109fs Single submitter hypogonadotropic hypogonadism 3 with or without anosmia
  • p.Tyr33His Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠

Conflicting classifications of pathogenicity 27

  • p.Ala51Thr Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Arg117Trp Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Arg248Gln Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Arg270His Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Arg353His Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Arg85Cys Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation ⚠
  • p.Arg85Gly Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Arg85His Single submitter PROKR2-related disorder ⚠
  • p.Arg85Leu Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Cys67= Single submitter hypogonadotropic hypogonadism 3 with or without anosmia
  • p.Gln210Arg Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Gly229Arg Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Gly234Asp Single submitter PROKR2-related disorder ⚠
  • p.Gly371Arg Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Gly57Cys Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Leu173Arg Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Leu91= Single submitter hypogonadotropic hypogonadism 3 with or without anosmia
  • p.Pro290Ser Single submitter Male infertility with spermatogenesis disorder ⚠
  • p.Ser188Leu Single submitter PROKR2-related disorder
  • p.Ser202Gly Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Thr260Met Single submitter hypogonadotropic hypogonadism 3 with or without anosmia
  • p.Trp178Ser Single submitter PROKR2-related disorder ⚠
  • p.Tyr113His Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Val158Ile Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Val180Met Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Val297Ile Single submitter hypogonadotropic hypogonadism 3 with or without anosmia ⚠
  • p.Met111Arg No assertion criteria hypogonadotropic hypogonadism 3 with or without anosmia ⚠

Benign 19

Benign/Likely benign 4

  • p.Arg268Cys Multiple submitters hypogonadotropic hypogonadism 3 with or without anosmia
  • p.His125= Multiple submitters hypogonadotropic hypogonadism 3 with or without anosmia
  • p.Thr335= Multiple submitters hypogonadotropic hypogonadism 3 with or without anosmia
  • p.Val331Met Multiple submitters hypogonadotropic hypogonadism 3 with or without anosmia

Likely benign 46

Uncertain significance 140