FRG1 — 44 ClinVar variants
All ClinVar germline FRG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
1 Pathogenic · 1 Benign · 1 Benign/Likely benign · 7 Likely benign · 34 Uncertain significance
Full FRG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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FRG1 p.Ala108Thr
Pathogenic
No assertion criteria
Pulmonary artery atresia
Predictors lean, ClinVar uncertain 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FRG1 p.Asn208Ser Uncertain significance Single submitter
- FRG1 p.Asp192Gly Uncertain significance Single submitter
- FRG1 p.Asp237Val Uncertain significance Single submitter
- FRG1 p.Asp28Asn Uncertain significance Single submitter
- FRG1 p.Asp65Val Uncertain significance Single submitter
- FRG1 p.Cys183Gly Uncertain significance Single submitter
- FRG1 p.Glu139Asp Uncertain significance Single submitter
- FRG1 p.Glu187Lys Uncertain significance Single submitter
- FRG1 p.Glu35Asp Uncertain significance Single submitter
- FRG1 p.Glu38Asp Uncertain significance Single submitter
- FRG1 p.Ile230Ser Uncertain significance Single submitter
- FRG1 p.Ile230Thr Uncertain significance Single submitter
- FRG1 p.Ile60Val Uncertain significance Single submitter
- FRG1 p.Lys229Glu Uncertain significance Single submitter
- FRG1 p.Lys32Arg Uncertain significance Single submitter
- FRG1 p.Lys66Arg Uncertain significance Single submitter
- FRG1 p.Phe156Leu Uncertain significance Single submitter
- FRG1 p.Ser224Asn Uncertain significance Single submitter
- FRG1 p.Thr10Ala Uncertain significance Single submitter
- FRG1 p.Thr188Ile Uncertain significance Single submitter
- FRG1 p.Thr39Ile Uncertain significance Single submitter
- FRG1 p.Trp47Cys Uncertain significance Single submitter
- FRG1 p.Tyr69Asn Uncertain significance Single submitter
- FRG1 p.Tyr69Cys Uncertain significance Single submitter
- FRG1 p.Val125Ile Uncertain significance Single submitter
- FRG1 p.Val141Gly Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All FRG1 variants
Pathogenic 1
- p.Ala108Thr No assertion criteria Pulmonary artery atresia ⚠
Benign 1
- c.537+4A>T No assertion criteria FRG1-related disorder
Benign/Likely benign 1
- c.630-4A>G No assertion criteria
Likely benign 7
- p.Asp193Asn Single submitter
- p.Thr39= Single submitter
- p.Glu89= No assertion criteria FRG1-related disorder
- p.Gly123Glu No assertion criteria FRG1-related disorder
- p.Leu244= No assertion criteria FRG1-related disorder
- p.Ser26Asn No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Tyr209= No assertion criteria FRG1-related disorder
Uncertain significance 34
- p.Asn208Ser Single submitter ⚠
- p.Asp192Gly Single submitter ⚠
- p.Asp227Gly Single submitter
- p.Asp237Tyr Single submitter
- p.Asp237Val Single submitter ⚠
- p.Asp28Asn Single submitter ⚠
- p.Asp65Val Single submitter ⚠
- p.Cys183Gly Single submitter ⚠
- p.Glu139Asp Single submitter ⚠
- p.Glu187Lys Single submitter ⚠
- p.Glu242Gln Single submitter ⚠
- p.Glu35Asp Single submitter ⚠
- p.Glu38Asp Single submitter ⚠
- p.Gly163Arg Single submitter ⚠
- p.Gly16Glu Single submitter ⚠
- p.Ile230Ser Single submitter ⚠
- p.Ile230Thr Single submitter ⚠
- p.Ile60Val Single submitter ⚠
- p.Lys229Glu Single submitter ⚠
- p.Lys232Ile Single submitter
- p.Lys32Arg Single submitter ⚠
- p.Lys66Arg Single submitter ⚠
- p.Phe156Leu Single submitter ⚠
- p.Pro140Thr Single submitter
- p.Ser224Asn Single submitter ⚠
- p.Ser5Phe Single submitter ⚠
- p.Thr10Ala Single submitter ⚠
- p.Thr188Ile Single submitter ⚠
- p.Thr39Ile Single submitter ⚠
- p.Trp47Cys Single submitter ⚠
- p.Tyr69Asn Single submitter ⚠
- p.Tyr69Cys Single submitter ⚠
- p.Val125Ile Single submitter ⚠
- p.Val141Gly Single submitter ⚠