Sugi Variant

Sugi Variant/B2M

B2M — 75 ClinVar variants

All ClinVar germline B2M variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →

2 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 1 Benign · 1 Benign/Likely benign · 31 Likely benign · 36 Uncertain significance

Full B2M gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 35

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 1

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

Predictors lean, ClinVar uncertain 17

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

Predictors split 16

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

All B2M variants

Pathogenic 2

  • p.Asp96Asn Single submitter non-Hodgkin lymphoma ⚠
  • p.Leu7Ter Single submitter hypoproteinemia, hypercatabolic

Likely pathogenic 3

  • c.67+1G>T Single submitter familial visceral amyloidosis
  • c.68-2A>C Single submitter hypoproteinemia, hypercatabolic
  • p.Met1Thr Single submitter amyloidosis, hereditary systemic 6

Conflicting classifications of pathogenicity 1

  • p.Thr93Asn Single submitter amyloidosis, hereditary systemic 6 ⚠

Benign 1

Benign/Likely benign 1

  • c.67+19C>T Multiple submitters familial visceral amyloidosis

Likely benign 31

  • c.67+12C>T Multiple submitters familial visceral amyloidosis
  • c.68-13C>T Multiple submitters hypoproteinemia, hypercatabolic
  • p.Ala35= Multiple submitters hypoproteinemia, hypercatabolic
  • c.346+7C>G Single submitter hypoproteinemia, hypercatabolic
  • c.347-15C>T Single submitter hypoproteinemia, hypercatabolic
  • c.347-4A>G Single submitter hypoproteinemia, hypercatabolic
  • c.67+20C>A Single submitter hypoproteinemia, hypercatabolic
  • c.67+20C>T Single submitter hypoproteinemia, hypercatabolic
  • c.67+9C>T Single submitter hypoproteinemia, hypercatabolic
  • c.68-10T>C Single submitter hypoproteinemia, hypercatabolic
  • c.68-12G>A Single submitter hypoproteinemia, hypercatabolic
  • c.68-18T>C Single submitter hypoproteinemia, hypercatabolic
  • p.Ala11= Single submitter hypoproteinemia, hypercatabolic
  • p.Ala8= Single submitter hypoproteinemia, hypercatabolic
  • p.Arg117= Single submitter hypoproteinemia, hypercatabolic
  • p.Asp54= Single submitter hypoproteinemia, hypercatabolic
  • p.Cys100= Single submitter hypoproteinemia, hypercatabolic
  • p.Glu56= Single submitter hypoproteinemia, hypercatabolic
  • p.Gly38= Single submitter hypoproteinemia, hypercatabolic
  • p.Gly49= Single submitter hypoproteinemia, hypercatabolic
  • p.His104= Single submitter hypoproteinemia, hypercatabolic
  • p.Phe42= Single submitter hypoproteinemia, hypercatabolic
  • p.Phe76= Single submitter hypoproteinemia, hypercatabolic
  • p.Pro52= Single submitter hypoproteinemia, hypercatabolic
  • p.Ser53= Single submitter hypoproteinemia, hypercatabolic
  • p.Thr93= Single submitter hypoproteinemia, hypercatabolic
  • p.Tyr46= Single submitter hypoproteinemia, hypercatabolic
  • p.Tyr87= Single submitter hypoproteinemia, hypercatabolic
  • p.Val102= Single submitter hypoproteinemia, hypercatabolic
  • p.Val47= Single submitter hypoproteinemia, hypercatabolic
  • p.Val9= Single submitter hypoproteinemia, hypercatabolic

Uncertain significance 36