FBF1 — 21 ClinVar variants
All ClinVar germline FBF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
4 Likely benign · 17 Uncertain significance
Full FBF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FBF1 p.Arg1092His Uncertain significance Single submitter
- FBF1 p.Arg504Thr Uncertain significance Single submitter
- FBF1 p.Arg567Trp Uncertain significance Single submitter
- FBF1 p.Arg646Leu Uncertain significance Single submitter
- FBF1 p.Arg790Cys Uncertain significance Single submitter
- FBF1 p.Asp96His Uncertain significance Single submitter
- FBF1 p.Glu365Ala Uncertain significance Single submitter
- FBF1 p.Gly296Ala Uncertain significance Single submitter
- FBF1 p.Gly416Glu Uncertain significance Single submitter
- FBF1 p.His463Arg Uncertain significance Single submitter
- FBF1 p.His599Tyr Uncertain significance Single submitter
- FBF1 p.His766Gln Uncertain significance Single submitter
- FBF1 p.Lys975Arg Uncertain significance Single submitter
- FBF1 p.Ser113Ile Uncertain significance Single submitter
- FBF1 p.Ser492Asn Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All FBF1 variants
Likely benign 4
- p.Ala372Pro Single submitter
- p.Ala465Val Single submitter
- p.Gly786= Single submitter
- p.Ile80Val Single submitter
Uncertain significance 17
- c.1674+2T>C Single submitter
- p.Arg1092His Single submitter ⚠
- p.Arg504Thr Single submitter ⚠
- p.Arg567Trp Single submitter ⚠
- p.Arg618Trp Single submitter ⚠
- p.Arg646Leu Single submitter ⚠
- p.Arg790Cys Single submitter ⚠
- p.Asp96His Single submitter ⚠
- p.Glu365Ala Single submitter ⚠
- p.Gly296Ala Single submitter ⚠
- p.Gly416Glu Single submitter ⚠
- p.His463Arg Single submitter ⚠
- p.His599Tyr Single submitter ⚠
- p.His766Gln Single submitter ⚠
- p.Lys975Arg Single submitter ⚠
- p.Ser113Ile Single submitter ⚠
- p.Ser492Asn Single submitter ⚠