SRSF2 — 16 ClinVar variants
All ClinVar germline SRSF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 1 Benign · 4 Likely benign · 8 Uncertain significance
Full SRSF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 3
The independent predictors disagree with each other — read with care.
All SRSF2 variants
Pathogenic 2
- p.Pro95His Single submitter
- p.Pro95Leu No assertion criteria acute myeloid leukemia
Likely pathogenic 1
- p.Pro95Arg Single submitter acute megakaryoblastic leukemia in down syndrome
Benign 1
- p.Asp48= No assertion criteria SRSF2-related disorder
Likely benign 4
Uncertain significance 8
- p.178RS[6] Single submitter
- p.Arg141Gly Single submitter ⚠
- p.Arg186Gly Single submitter ⚠
- p.Arg186Leu Single submitter ⚠
- p.Arg205Pro Single submitter ⚠
- p.Pro106Leu Single submitter ⚠
- p.Pro209Leu Single submitter ⚠
- p.Ser177Cys Single submitter ⚠