Sugi Variant

Sugi Variant/RASGRP2

RASGRP2 — 321 ClinVar variants

All ClinVar germline RASGRP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →

11 Pathogenic · 1 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 10 Conflicting · 34 Benign · 6 Benign/Likely benign · 127 Likely benign · 116 Uncertain significance

Full RASGRP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 112

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 4

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

Predictors lean, ClinVar uncertain 80

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

Predictors split 27

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

All RASGRP2 variants

Pathogenic 11

Pathogenic/Likely pathogenic 1

  • p.Phe497fs Multiple submitters Abnormal platelet aggregation

Likely pathogenic 16

  • p.Gly305Asp Multiple submitters Abnormal bleeding
  • c.1173+1G>A Single submitter
  • c.239+1G>A Single submitter
  • c.239+2T>G Single submitter Abnormal platelet aggregation
  • c.372-3C>G Single submitter Abnormal platelet aggregation
  • c.814-16_814-5del Single submitter Abnormal platelet aggregation
  • p.Cys296Tyr Single submitter platelet-type bleeding disorder 18
  • p.His426fs Single submitter RASGRP2-related disorder
  • p.Leu235Pro Single submitter Abnormal platelet aggregation ⚠
  • p.Leu258Pro Single submitter Abnormal platelet aggregation
  • p.Lys333Asn Single submitter Abnormal platelet aggregation
  • p.Tyr289Cys Single submitter Abnormal platelet aggregation
  • c.1412+2T>C No assertion criteria RASGRP2-related disorder
  • p.Ala345Pro No assertion criteria platelet-type bleeding disorder 18 ⚠
  • p.Arg494fs No assertion criteria platelet-type bleeding disorder 18
  • p.Gly248Arg No assertion criteria platelet-type bleeding disorder 18

Conflicting classifications of pathogenicity 10

Benign 34

Benign/Likely benign 6

Likely benign 127

Uncertain significance 116