IGF2BP1 — 51 ClinVar variants
All ClinVar germline IGF2BP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
4 Benign · 1 Benign/Likely benign · 1 Likely benign · 45 Uncertain significance
Full IGF2BP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IGF2BP1 p.Ala237Gly Uncertain significance Single submitter
- IGF2BP1 p.Ala237Thr Uncertain significance Single submitter
- IGF2BP1 p.Ala274Ser Uncertain significance Single submitter
- IGF2BP1 p.Ala332Thr Uncertain significance Single submitter
- IGF2BP1 p.Ala357Pro Uncertain significance Single submitter
- IGF2BP1 p.Ala382Thr Uncertain significance Single submitter
- IGF2BP1 p.Ala402Val Uncertain significance Single submitter
- IGF2BP1 p.Ala442Val Uncertain significance Single submitter
- IGF2BP1 p.Arg219Cys Uncertain significance Single submitter
- IGF2BP1 p.Arg348Trp Uncertain significance Single submitter
- IGF2BP1 p.Arg493His Uncertain significance Single submitter
- IGF2BP1 p.Arg575Trp Uncertain significance Single submitter
- IGF2BP1 p.Asn10Ser Uncertain significance Single submitter
- IGF2BP1 p.Asn146Lys Uncertain significance Single submitter
- IGF2BP1 p.Asn478Ser Uncertain significance Single submitter
- IGF2BP1 p.Gln64Arg Uncertain significance Single submitter
- IGF2BP1 p.Gln78Lys Uncertain significance Single submitter
- IGF2BP1 p.Glu340Lys Uncertain significance Single submitter
- IGF2BP1 p.His564Arg Uncertain significance Single submitter
- IGF2BP1 p.Ile281Met Uncertain significance Single submitter
- IGF2BP1 p.Ile292Thr Uncertain significance Single submitter
- IGF2BP1 p.Ile333Val Uncertain significance Single submitter
- IGF2BP1 p.Lys301Arg Uncertain significance Single submitter
- IGF2BP1 p.Met344Thr Uncertain significance Single submitter
- IGF2BP1 p.Pro188Leu Uncertain significance Single submitter
- IGF2BP1 p.Pro385Gln Uncertain significance Single submitter
- IGF2BP1 p.Pro459Leu Uncertain significance Single submitter
- IGF2BP1 p.Ser359Asn Uncertain significance Single submitter
- IGF2BP1 p.Ser388Asn Uncertain significance Single submitter
- IGF2BP1 p.Tyr396Cys Uncertain significance Single submitter
- IGF2BP1 p.Val183Leu Uncertain significance Single submitter
- IGF2BP1 p.Val390Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- IGF2BP1 p.Arg174Trp Uncertain significance Single submitter
- IGF2BP1 p.Arg297Trp Uncertain significance Single submitter
- IGF2BP1 p.Arg554Gln Uncertain significance Single submitter
- IGF2BP1 p.Cys337Tyr Uncertain significance Single submitter
- IGF2BP1 p.Glu24Lys Uncertain significance Single submitter
- IGF2BP1 p.Glu276Lys Uncertain significance Single submitter
- IGF2BP1 p.Glu404Lys Uncertain significance Single submitter
- IGF2BP1 p.Gly169Glu Uncertain significance Single submitter
- IGF2BP1 p.Lys223Glu Uncertain significance Single submitter
- IGF2BP1 p.Pro250Ser Uncertain significance Single submitter
- IGF2BP1 p.Pro278Leu Uncertain significance Single submitter
- IGF2BP1 p.Pro45Ser Uncertain significance Single submitter
All IGF2BP1 variants
Benign 4
- c.*6013T>C Multiple submitters
- p.Asn236= Multiple submitters
- p.His265Gln Multiple submitters
- c.176-3T>C Single submitter
Benign/Likely benign 1
- p.Thr106= Multiple submitters
Likely benign 1
- c.1078-4C>T Single submitter
Uncertain significance 45
- c.1201-2A>C Single submitter
- p.Ala237Gly Single submitter ⚠
- p.Ala237Thr Single submitter ⚠
- p.Ala274Ser Single submitter ⚠
- p.Ala332Thr Single submitter ⚠
- p.Ala357Pro Single submitter ⚠
- p.Ala382Thr Single submitter ⚠
- p.Ala402Val Single submitter ⚠
- p.Ala442Val Single submitter ⚠
- p.Arg174Trp Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg297Trp Single submitter ⚠
- p.Arg348Trp Single submitter ⚠
- p.Arg493His Single submitter ⚠
- p.Arg554Gln Single submitter ⚠
- p.Arg575Trp Single submitter ⚠
- p.Asn10Ser Single submitter ⚠
- p.Asn146Lys Single submitter ⚠
- p.Asn478Ser Single submitter ⚠
- p.Cys337Tyr Single submitter ⚠
- p.Gln64Arg Single submitter ⚠
- p.Gln78Lys Single submitter ⚠
- p.Glu24Lys Single submitter ⚠
- p.Glu276Lys Single submitter ⚠
- p.Glu340Lys Single submitter ⚠
- p.Glu404Lys Single submitter ⚠
- p.Gly169Glu Single submitter ⚠
- p.His564Arg Single submitter ⚠
- p.Ile281Met Single submitter ⚠
- p.Ile292Thr Single submitter ⚠
- p.Ile333Val Single submitter ⚠
- p.Lys223Glu Single submitter ⚠
- p.Lys301Arg Single submitter ⚠
- p.Met344Thr Single submitter ⚠
- p.Pro188Leu Single submitter ⚠
- p.Pro250Ser Single submitter ⚠
- p.Pro278Leu Single submitter ⚠
- p.Pro385Gln Single submitter ⚠
- p.Pro459Leu Single submitter ⚠
- p.Pro45Ser Single submitter ⚠
- p.Ser359Asn Single submitter ⚠
- p.Ser388Asn Single submitter ⚠
- p.Tyr396Cys Single submitter ⚠
- p.Val183Leu Single submitter ⚠
- p.Val390Ile Single submitter ⚠