IL1B — 21 ClinVar variants
All ClinVar germline IL1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
2 Benign · 1 Benign/Likely benign · 4 Likely benign · 14 Uncertain significance
Full IL1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IL1B p.Asn223Ser Uncertain significance Single submitter
- IL1B p.Asn235Ser Uncertain significance Single submitter
- IL1B p.Asp38Glu Uncertain significance Single submitter
- IL1B p.Asp54Asn Uncertain significance Single submitter
- IL1B p.Asp72Asn Uncertain significance Single submitter
- IL1B p.Gln31Arg Uncertain significance Single submitter
- IL1B p.Gln49Lys Uncertain significance Single submitter
- IL1B p.Glu101Asp Uncertain significance Single submitter
- IL1B p.Leu122Val Uncertain significance Single submitter
- IL1B p.Pro80Ser Uncertain significance Single submitter
- IL1B p.Tyr15His Uncertain significance Single submitter
- IL1B p.Glu10Lys Uncertain significance No assertion criteria
Predictors split 2
The independent predictors disagree with each other — read with care.
All IL1B variants
Benign 2
- c.100-10C>T Multiple submitters
- p.Gly46= Multiple submitters
Benign/Likely benign 1
- p.Tyr57= Multiple submitters
Likely benign 4
- p.Ile103= Single submitter
- p.Lys210= Single submitter
- p.Tyr140Cys Single submitter
- c.100-5C>T No assertion criteria IL1B-related disorder
Uncertain significance 14
- p.Asn223Ser Single submitter ⚠
- p.Asn235Ser Single submitter ⚠
- p.Asp38Glu Single submitter ⚠
- p.Asp54Asn Single submitter ⚠
- p.Asp72Asn Single submitter ⚠
- p.Gln31Arg Single submitter ⚠
- p.Gln49Lys Single submitter ⚠
- p.Glu101Asp Single submitter ⚠
- p.Glu141Asp Single submitter ⚠
- p.Leu122Val Single submitter ⚠
- p.Pro80Ser Single submitter ⚠
- p.Tyr15His Single submitter ⚠
- p.Val188Met Single submitter ⚠
- p.Glu10Lys No assertion criteria ⚠