Sugi Variant

Sugi Variant/PBRM1

PBRM1 — 84 ClinVar variants

All ClinVar germline PBRM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6 flagged for review →

1 Pathogenic · 52 Benign · 1 Benign/Likely benign · 23 Likely benign · 7 Uncertain significance

Full PBRM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 6

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 lean, ClinVar uncertain 5

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

Predictors split 1

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

All PBRM1 variants

Pathogenic 1

  • p.Asp1348fs No assertion criteria clear cell renal carcinoma

Benign 52

Benign/Likely benign 1

Likely benign 23

Uncertain significance 7