FADS2 — 22 ClinVar variants
All ClinVar germline FADS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
3 Benign · 1 Likely benign · 18 Uncertain significance
Full FADS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FADS2 p.Ala115Val Uncertain significance Single submitter
- FADS2 p.Ala408Ser Uncertain significance Single submitter
- FADS2 p.Arg14Cys Uncertain significance Single submitter
- FADS2 p.Arg353His Uncertain significance Single submitter
- FADS2 p.Arg58Gln Uncertain significance Single submitter
- FADS2 p.Arg73Cys Uncertain significance Single submitter
- FADS2 p.Asn156His Uncertain significance Single submitter
- FADS2 p.Asn234Asp Uncertain significance Single submitter
- FADS2 p.Glu413Asp Uncertain significance Single submitter
- FADS2 p.Ile304Val Uncertain significance Single submitter
- FADS2 p.Ile311Leu Uncertain significance Single submitter
- FADS2 p.Ile412Val Uncertain significance Single submitter
- FADS2 p.Phe132Leu Uncertain significance Single submitter
- FADS2 p.Thr119Met Uncertain significance Single submitter
- FADS2 p.Val131Ala Uncertain significance Single submitter
- FADS2 p.Val151Leu Uncertain significance Single submitter
- FADS2 p.Val238Leu Uncertain significance Single submitter
All FADS2 variants
Benign 3
- p.His221= Multiple submitters
- c.208-3247C>G Single submitter
- c.744+4C>T Single submitter
Likely benign 1
- p.Val201Ile Single submitter
Uncertain significance 18
- p.Ala115Val Single submitter ⚠
- p.Ala408Ser Single submitter ⚠
- p.Arg14Cys Single submitter ⚠
- p.Arg353His Single submitter ⚠
- p.Arg58Gln Single submitter ⚠
- p.Arg73Cys Single submitter ⚠
- p.Asn156His Single submitter ⚠
- p.Asn234Asp Single submitter ⚠
- p.Glu413Asp Single submitter ⚠
- p.Ile304Val Single submitter ⚠
- p.Ile311Leu Single submitter ⚠
- p.Ile412Val Single submitter ⚠
- p.Phe132Leu Single submitter ⚠
- p.Pro401Leu Single submitter
- p.Thr119Met Single submitter ⚠
- p.Val131Ala Single submitter ⚠
- p.Val151Leu Single submitter ⚠
- p.Val238Leu Single submitter ⚠