BRI3 — 19 ClinVar variants
All ClinVar germline BRI3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
1 Benign · 1 Likely benign · 17 Uncertain significance
Full BRI3 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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BRI3 p.Gly26Ser Uncertain significance Single submitter
- BRI3 p.His3Arg Uncertain significance Single submitter
- BRI3 p.His52Asp Uncertain significance Single submitter
- BRI3 p.His52Tyr Uncertain significance Single submitter
- BRI3 p.Ile49Met Uncertain significance Single submitter
- BRI3 p.Ile99Thr Uncertain significance Single submitter
- BRI3 p.Phe124Leu Uncertain significance Single submitter
- BRI3 p.Pro43His Uncertain significance Single submitter
- BRI3 p.Pro79Leu Uncertain significance Single submitter
- BRI3 p.Thr47Pro Uncertain significance Single submitter
- BRI3 p.Thr65Pro Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- BRI3 p.Glu9Gly Uncertain significance Single submitter
- BRI3 p.Phe106Leu Uncertain significance Single submitter
- BRI3 p.Pro12Arg Uncertain significance Single submitter
- BRI3 p.Pro38Arg Uncertain significance Single submitter
- BRI3 p.Pro50Arg Uncertain significance Single submitter
- BRI3 p.Pro5Ala Uncertain significance Single submitter
All BRI3 variants
Benign 1
- p.His60= Multiple submitters
Likely benign 1
- p.Ala125Thr Single submitter
Uncertain significance 17
- p.Glu9Gly Single submitter ⚠
- p.Gly26Ser Single submitter ⚠
- p.His3Arg Single submitter ⚠
- p.His52Asp Single submitter ⚠
- p.His52Tyr Single submitter ⚠
- p.Ile49Met Single submitter ⚠
- p.Ile99Thr Single submitter ⚠
- p.Phe106Leu Single submitter ⚠
- p.Phe124Leu Single submitter ⚠
- p.Pro12Arg Single submitter ⚠
- p.Pro38Arg Single submitter ⚠
- p.Pro43His Single submitter ⚠
- p.Pro50Arg Single submitter ⚠
- p.Pro5Ala Single submitter ⚠
- p.Pro79Leu Single submitter ⚠
- p.Thr47Pro Single submitter ⚠
- p.Thr65Pro Single submitter ⚠