Sugi Variant

Sugi Variant/MFAP5

MFAP5 — 263 ClinVar variants

All ClinVar germline MFAP5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 16 Conflicting · 35 Benign · 7 Benign/Likely benign · 84 Likely benign · 118 Uncertain significance

Full MFAP5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 76

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 9

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

Predictors lean, ClinVar uncertain 55

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 MFAP5 variants

Pathogenic 1

Likely pathogenic 2

  • c.59-1G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys88fs Single submitter aortic aneurysm, familial thoracic 9

Conflicting classifications of pathogenicity 16

Benign 35

Benign/Likely benign 7

  • c.172+5A>G Multiple submitters aortic aneurysm, familial thoracic 9
  • c.247+10T>C Multiple submitters
  • c.336-9C>T Multiple submitters aortic aneurysm, familial thoracic 9
  • c.59-4A>T Multiple submitters Cardiovascular phenotype
  • p.Ala53Thr Multiple submitters Cardiovascular phenotype
  • p.Ile65= Multiple submitters Cardiovascular phenotype
  • p.Ser2= Multiple submitters aortic aneurysm, familial thoracic 9

Likely benign 84

Uncertain significance 118