AGO3 — 69 ClinVar variants
All ClinVar germline AGO3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
7 Benign · 1 Benign/Likely benign · 14 Likely benign · 47 Uncertain significance
Full AGO3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AGO3 p.Ala185Thr Uncertain significance Single submitter
- AGO3 p.Ala9Thr Uncertain significance Single submitter
- AGO3 p.Arg208Trp Uncertain significance Single submitter
- AGO3 p.Arg412His Uncertain significance Single submitter
- AGO3 p.Arg535Cys Uncertain significance Single submitter
- AGO3 p.Asn730Ser Uncertain significance Single submitter
- AGO3 p.Asn96Ser Uncertain significance Single submitter
- AGO3 p.Asp359Gly Uncertain significance Single submitter
- AGO3 p.Cys774Ser Uncertain significance Single submitter
- AGO3 p.Gln12His Uncertain significance Single submitter
- AGO3 p.Gln396Arg Uncertain significance Single submitter
- AGO3 p.Glu147Lys Uncertain significance Single submitter
- AGO3 p.Gly10Val Uncertain significance Single submitter
- AGO3 p.Gly195Glu Uncertain significance Single submitter
- AGO3 p.Gly4Asp Uncertain significance Single submitter
- AGO3 p.Ile467Val Uncertain significance Single submitter
- AGO3 p.Ile706Thr Uncertain significance Single submitter
- AGO3 p.Phe225Leu Uncertain significance Single submitter
- AGO3 p.Phe492Ser Uncertain significance Single submitter
- AGO3 p.Pro13Ser Uncertain significance Single submitter
- AGO3 p.Pro18Leu Uncertain significance Single submitter
- AGO3 p.Pro803Leu Uncertain significance Single submitter
- AGO3 p.Thr102Ser Uncertain significance Single submitter
- AGO3 p.Thr103Ala Uncertain significance Single submitter
- AGO3 p.Thr391Ala Uncertain significance Single submitter
- AGO3 p.Thr714Ser Uncertain significance Single submitter
- AGO3 p.Tyr23Cys Uncertain significance Single submitter
- AGO3 p.Val100Met Uncertain significance Single submitter
- AGO3 p.Val165Met Uncertain significance Single submitter
- AGO3 p.Val580Leu Uncertain significance Single submitter
- AGO3 p.Val831Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- AGO3 p.Ala387Gly Uncertain significance Single submitter
- AGO3 p.Ala644Thr Uncertain significance Single submitter
- AGO3 p.Arg130Trp Uncertain significance Single submitter
-
AGO3 p.Arg426Gln
Uncertain significance
Single submitter
AGO3-related disorder
- AGO3 p.His823Arg Uncertain significance Single submitter
- AGO3 p.Leu541Val Uncertain significance Single submitter
- AGO3 p.Lys441Gln Uncertain significance Single submitter
- AGO3 p.Lys57Arg Uncertain significance Single submitter
- AGO3 p.Met70Val Uncertain significance Single submitter
- AGO3 p.Pro186Leu Uncertain significance Single submitter
-
AGO3 p.Thr338Ile
Uncertain significance
Single submitter
AGO3-related disorder
- AGO3 p.Val131Leu Uncertain significance Single submitter
- AGO3 p.Val413Ile Uncertain significance Single submitter
All AGO3 variants
Benign 7
Benign/Likely benign 1
- p.Arg403= Multiple submitters
Likely benign 14
- c.1751+10G>A Single submitter
- p.Ala228= Single submitter
- p.Ala310= Single submitter
- p.Arg143= Single submitter
- p.His601= Single submitter
- p.Leu145= Single submitter
- p.Leu419= Single submitter
- p.Pro591= Single submitter
- p.Pro840= Single submitter
- p.Ala597= No assertion criteria AGO3-related disorder
- p.Gln709= No assertion criteria AGO3-related disorder
- p.His191= No assertion criteria AGO3-related disorder
- p.Phe747= No assertion criteria AGO3-related disorder
- p.Pro324= No assertion criteria AGO3-related disorder
Uncertain significance 47
- p.Ala185Thr Single submitter ⚠
- p.Ala387Gly Single submitter ⚠
- p.Ala453Ser Single submitter
- p.Ala644Thr Single submitter ⚠
- p.Ala9Thr Single submitter ⚠
- p.Arg130Trp Single submitter ⚠
- p.Arg208Trp Single submitter ⚠
- p.Arg412His Single submitter ⚠
- p.Arg426Gln Single submitter AGO3-related disorder ⚠
- p.Arg476His Single submitter
- p.Arg535Cys Single submitter ⚠
- p.Asn730Ser Single submitter ⚠
- p.Asn96Ser Single submitter ⚠
- p.Asp359Gly Single submitter ⚠
- p.Cys774Ser Single submitter ⚠
- p.Gln12His Single submitter ⚠
- p.Gln396Arg Single submitter ⚠
- p.Glu147Lys Single submitter ⚠
- p.Gly10Val Single submitter ⚠
- p.Gly195Glu Single submitter ⚠
- p.Gly4Asp Single submitter ⚠
- p.His823Arg Single submitter ⚠
- p.Ile467Val Single submitter ⚠
- p.Ile706Thr Single submitter ⚠
- p.Leu541Val Single submitter ⚠
- p.Leu769Ter Single submitter
- p.Lys441Gln Single submitter ⚠
- p.Lys57Arg Single submitter ⚠
- p.Met70Val Single submitter ⚠
- p.Phe225Leu Single submitter ⚠
- p.Phe492Ser Single submitter ⚠
- p.Pro13Ser Single submitter ⚠
- p.Pro186Leu Single submitter ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro803Leu Single submitter ⚠
- p.Thr102Ser Single submitter ⚠
- p.Thr103Ala Single submitter ⚠
- p.Thr338Ile Single submitter AGO3-related disorder ⚠
- p.Thr391Ala Single submitter ⚠
- p.Thr714Ser Single submitter ⚠
- p.Tyr23Cys Single submitter ⚠
- p.Val100Met Single submitter ⚠
- p.Val131Leu Single submitter ⚠
- p.Val165Met Single submitter ⚠
- p.Val413Ile Single submitter ⚠
- p.Val580Leu Single submitter ⚠
- p.Val831Ile Single submitter ⚠