GNAI2 — 37 ClinVar variants
All ClinVar germline GNAI2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
4 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 5 Likely benign · 25 Uncertain significance
Full GNAI2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GNAI2 p.Ala101Val
Conflicting
Single submitter
long QT syndrome
-
GNAI2 p.Arg179Cys
Conflicting
No assertion criteria
ovarian granulosa cell tumor
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.
- GNAI2 p.Ala101Thr Uncertain significance Single submitter
- GNAI2 p.Arg129Gln Uncertain significance Single submitter
- GNAI2 p.Asp273Asn Uncertain significance Single submitter
- GNAI2 p.Asp273Glu Uncertain significance Single submitter
- GNAI2 p.Asp342Asn Uncertain significance Single submitter
- GNAI2 p.Gln205Arg Uncertain significance Single submitter
- GNAI2 p.Gln205Pro Uncertain significance Single submitter
- GNAI2 p.Glu63Lys Uncertain significance Single submitter
- GNAI2 p.Gly126Ser Uncertain significance Single submitter
- GNAI2 p.Gly126Val Uncertain significance Single submitter
- GNAI2 p.Gly353Ser Uncertain significance Single submitter
- GNAI2 p.Met244Lys Uncertain significance Single submitter
- GNAI2 p.Ser75Asn Uncertain significance Single submitter
- GNAI2 p.Thr48Ile Uncertain significance Single submitter
- GNAI2 p.Val333Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
- GNAI2 p.Ala71Glu Uncertain significance Single submitter
-
GNAI2 p.Arg129Trp
Uncertain significance
Single submitter
ventricular tachycardia, familial
- GNAI2 p.Glu28Lys Uncertain significance Single submitter
- GNAI2 p.His245Asn Uncertain significance Single submitter
- GNAI2 p.Val180Ile Uncertain significance Single submitter
All GNAI2 variants
Pathogenic 4
- p.Thr182Ile Multiple submitters syndromic disease
- p.Arg179His Single submitter ovarian granulosa cell tumor
- p.Arg179Gly No assertion criteria Cushing disease due to pituitary adenoma
- p.Phe200Leu No assertion criteria Ventricular tachycardia, somatic
Likely pathogenic 1
- p.Thr182Pro Single submitter Retractile testis
Conflicting classifications of pathogenicity 2
- p.Ala101Val Single submitter long QT syndrome ⚠
- p.Arg179Cys No assertion criteria ovarian granulosa cell tumor ⚠
Likely benign 5
Uncertain significance 25
- c.-96G>A Single submitter
- p.Ala101Thr Single submitter ⚠
- p.Ala71Glu Single submitter ⚠
- p.Arg129Gln Single submitter ⚠
- p.Arg129Trp Single submitter ventricular tachycardia, familial ⚠
- p.Asp273Asn Single submitter ⚠
- p.Asp273Glu Single submitter ⚠
- p.Asp342Asn Single submitter ⚠
- p.Gln165_Ser166insTer Single submitter
- p.Gln205Arg Single submitter ⚠
- p.Gln205Pro Single submitter ⚠
- p.Glu28Lys Single submitter ⚠
- p.Glu63Lys Single submitter ⚠
- p.Gly126Ser Single submitter ⚠
- p.Gly126Val Single submitter ⚠
- p.Gly293= Single submitter familial isolated pituitary adenoma
- p.Gly353Ser Single submitter ⚠
- p.His245Asn Single submitter ⚠
- p.Met244Lys Single submitter ⚠
- p.Pro121Arg Single submitter
- p.Pro283His Single submitter
- p.Ser75Asn Single submitter ⚠
- p.Thr48Ile Single submitter ⚠
- p.Val180Ile Single submitter ⚠
- p.Val333Met Single submitter ⚠