Sugi Variant

Sugi Variant/MMP2

MMP2 — 432 ClinVar variants

All ClinVar germline MMP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →

18 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 23 Conflicting · 61 Benign · 8 Benign/Likely benign · 128 Likely benign · 183 Uncertain significance

Full MMP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 146

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 103

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

Predictors split 38

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

All MMP2 variants

Pathogenic 18

  • p.Tyr244Ter Multiple submitters multicentric osteolysis, nodulosis, and arthropathy
  • p.Arg101Cys Single submitter multicentric osteolysis, nodulosis, and arthropathy
  • p.Arg161Ter Single submitter
  • p.Arg550Ter Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Asn430fs Single submitter multicentric osteolysis, nodulosis, and arthropathy
  • p.Asp90fs Single submitter
  • p.Gln289Ter Single submitter
  • p.Glu231Ter Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Glu361Ter Single submitter
  • p.Ile582fs Single submitter
  • p.Lys116fs Single submitter multicentric osteolysis, nodulosis, and arthropathy
  • p.Lys267Ter Single submitter
  • p.Ser304fs Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Trp387Ter Single submitter
  • p.Tyr263Ter Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Arg101His No assertion criteria multicentric osteolysis, nodulosis, and arthropathy
  • p.Gly454fs No assertion criteria multicentric osteolysis, nodulosis, and arthropathy
  • p.Val400del No assertion criteria multicentric osteolysis, nodulosis, and arthropathy

Pathogenic/Likely pathogenic 2

  • p.Cys102Ter Multiple submitters multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Ser396Arg Multiple submitters MMP2-related disorder

Likely pathogenic 9

  • c.1336+2T>G Single submitter MMP2-related disorder
  • c.154-1492_320del Single submitter
  • c.1610-1G>C Single submitter multicentric osteolysis, nodulosis, and arthropathy
  • c.1770-1_1774del Single submitter
  • p.Gln471Ter Single submitter
  • p.Glu177Lys Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Glu404Lys Single submitter multicentric osteolysis, nodulosis, and arthropathy
  • p.Glu529Ter Single submitter multicentric osteolysis, nodulosis, and arthropathy
  • p.Phe488del Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum

Conflicting classifications of pathogenicity 23

  • c.1336+11G>A Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • c.380+10C>T Single submitter
  • c.658+10G>A Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • c.658+13C>T Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • c.833-9C>G Single submitter
  • p.Ala196= Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Asp153Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp180Asn Single submitter ⚠
  • p.Cys102= Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Glu593= Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Gly626Ser Single submitter Inborn genetic diseases ⚠
  • p.Ile35= Single submitter
  • p.Ile520= Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Leu411= Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Pro517= Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Ser253= Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Ser32= Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Thr311Met Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum ⚠
  • p.Tyr271= Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Tyr323= Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Tyr524= Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Val620= Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Val620Ile Single submitter multicentric osteolysis-nodulosis-arthropathy spectrum ⚠

Benign 61

Benign/Likely benign 8

  • c.1336+10C>T Multiple submitters
  • c.1337-7T>C Multiple submitters multicentric osteolysis-nodulosis-arthropathy spectrum
  • c.1769+10G>A Multiple submitters multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Arg500His Multiple submitters multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Glu166Lys Multiple submitters multicentric osteolysis-nodulosis-arthropathy spectrum ⚠
  • p.Gly418= Multiple submitters
  • p.Leu17= Multiple submitters multicentric osteolysis-nodulosis-arthropathy spectrum
  • p.Val523= Multiple submitters

Likely benign 128

Uncertain significance 183