IFNG — 36 ClinVar variants
All ClinVar germline IFNG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
1 Pathogenic · 1 Conflicting · 5 Benign · 8 Likely benign · 21 Uncertain significance
Full IFNG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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IFNG p.Asn39Lys
Uncertain significance
Single submitter
tuberous sclerosis 2
- IFNG p.Ile137Val Uncertain significance Single submitter
- IFNG p.Leu16Met Uncertain significance Single submitter
- IFNG p.Lys109Glu Uncertain significance Single submitter
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IFNG p.Lys36Gln
Uncertain significance
Single submitter
tuberous sclerosis 2
-
IFNG p.Ser144Leu
Uncertain significance
Single submitter
aplastic anemia
- IFNG p.Ser165Pro Uncertain significance Single submitter
- IFNG p.Thr119Ser Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All IFNG variants
Pathogenic 1
- p.Thr119fs No assertion criteria immunodeficiency 69
Conflicting classifications of pathogenicity 1
- c.-5A>G Single submitter aplastic anemia
Benign 5
- c.115-3del Multiple submitters immunodeficiency 69
- c.*180C>T Multiple submitters aplastic anemia
- c.115-4_115-3del Single submitter
- c.366+284G>A Single submitter
- c.*539A>G Single submitter aplastic anemia
Likely benign 8
- c.115-12T>C Single submitter
- c.*465A>T Single submitter aplastic anemia
- c.*500C>T Single submitter aplastic anemia
- p.Ala141= Single submitter
- p.Arg154fs Single submitter immunodeficiency 69
- p.Cys23= Single submitter
- p.Gln129= Single submitter
- p.Tyr27= Single submitter
Uncertain significance 21
- c.114+11C>T Single submitter aplastic anemia
- c.183+15C>G Single submitter aplastic anemia
- c.-2C>A Single submitter aplastic anemia
- c.-9T>C Single submitter aplastic anemia
- c.*107A>G Single submitter aplastic anemia
- c.*187T>G Single submitter aplastic anemia
- c.*22T>A Single submitter aplastic anemia
- c.*231T>C Single submitter aplastic anemia
- c.*93TCAA[1] Single submitter
- c.*9C>T Single submitter aplastic anemia
- p.Arg130Cys Single submitter ⚠
- p.Asn39Lys Single submitter tuberous sclerosis 2 ⚠
- p.Ile137Val Single submitter ⚠
- p.Leu143Met Single submitter
- p.Leu16Met Single submitter ⚠
- p.Lys109Glu Single submitter ⚠
- p.Lys36Gln Single submitter tuberous sclerosis 2 ⚠
- p.Ser144Leu Single submitter aplastic anemia ⚠
- p.Ser165Pro Single submitter ⚠
- p.Thr119Ser Single submitter ⚠
- p.Thr95= Single submitter aplastic anemia