ABCG2 — 56 ClinVar variants
All ClinVar germline ABCG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
1 Conflicting · 7 Benign · 5 Likely benign · 43 Uncertain significance
Full ABCG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABCG2 p.Asn289Lys Uncertain significance Single submitter
- ABCG2 p.Asp312Gly Uncertain significance Single submitter
- ABCG2 p.Asp419Tyr Uncertain significance Single submitter
- ABCG2 p.Gln324His Uncertain significance Single submitter
- ABCG2 p.Gln393Arg Uncertain significance Single submitter
- ABCG2 p.Gln437Arg Uncertain significance Single submitter
- ABCG2 p.Gly185Ala Uncertain significance Single submitter
-
ABCG2 p.Gly268Arg
Uncertain significance
Single submitter
hereditary breast ovarian cancer syndrome
- ABCG2 p.Gly415Glu Uncertain significance Single submitter
- ABCG2 p.Ile399Phe Uncertain significance Single submitter
- ABCG2 p.Ile543Val Uncertain significance Single submitter
- ABCG2 p.Leu264Arg Uncertain significance Single submitter
- ABCG2 p.Leu513Val Uncertain significance Single submitter
- ABCG2 p.Met523Leu Uncertain significance Single submitter
- ABCG2 p.Met549Leu Uncertain significance Single submitter
- ABCG2 p.Phe240Tyr Uncertain significance Single submitter
- ABCG2 p.Phe39Val Uncertain significance Single submitter
- ABCG2 p.Phe650Leu Uncertain significance Single submitter
- ABCG2 p.Pro290Arg Uncertain significance Single submitter
- ABCG2 p.Pro593Ser Uncertain significance Single submitter
- ABCG2 p.Ser205Pro Uncertain significance Single submitter
- ABCG2 p.Ser302Pro Uncertain significance Single submitter
- ABCG2 p.Thr150Arg Uncertain significance Single submitter
- ABCG2 p.Thr512Ser Uncertain significance Single submitter
- ABCG2 p.Thr579Met Uncertain significance Single submitter
- ABCG2 p.Trp379Arg Uncertain significance Single submitter
- ABCG2 p.Tyr654Cys Uncertain significance Single submitter
- ABCG2 p.Val408Leu Uncertain significance Single submitter
- ABCG2 p.Val445Leu Uncertain significance Single submitter
- ABCG2 p.Val449Ala Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- ABCG2 p.Ala505Gly Uncertain significance Single submitter
- ABCG2 p.Arg575Gln Uncertain significance Single submitter
- ABCG2 p.Ile70Phe Uncertain significance Single submitter
- ABCG2 p.Met481Lys Uncertain significance Single submitter
- ABCG2 p.Met514Thr Uncertain significance Single submitter
- ABCG2 p.Met71Val Likely benign Single submitter
- ABCG2 p.Phe507Val Uncertain significance Single submitter
- ABCG2 p.Pro485Thr Uncertain significance Single submitter
- ABCG2 p.Pro99Ala Uncertain significance Single submitter
- ABCG2 p.Ser255Arg Uncertain significance Single submitter
- ABCG2 p.Ser372Tyr Uncertain significance Single submitter
- ABCG2 p.Tyr645Cys Uncertain significance Single submitter
- ABCG2 p.Val631Met Uncertain significance Single submitter
-
ABCG2 p.Ala528Thr
Likely benign
No assertion criteria
ABCG2-related disorder
-
ABCG2 p.Gly354Arg
Likely benign
No assertion criteria
ABCG2-related disorder
All ABCG2 variants
Conflicting classifications of pathogenicity 1
- p.Leu264fs Single submitter BLOOD GROUP, JUNIOR SYSTEM
Benign 7
- p.Tyr123= Multiple submitters
- c.1195-834T>G Single submitter
- c.1277+1908T>G Single submitter
- c.1277+2227G>A Single submitter
- c.204-3C>T Single submitter
- c.-20+6341T>G Single submitter
- c.263+10A>G No assertion criteria ABCG2-related disorder
Likely benign 5
- p.Met71Val Single submitter ⚠
- p.Thr135= Single submitter
- c.841+3A>G No assertion criteria ABCG2-related disorder
- p.Ala528Thr No assertion criteria ABCG2-related disorder ⚠
- p.Gly354Arg No assertion criteria ABCG2-related disorder ⚠
Uncertain significance 43
- p.Ala505Gly Single submitter ⚠
- p.Arg575Gln Single submitter ⚠
- p.Asn289Lys Single submitter ⚠
- p.Asp312Gly Single submitter ⚠
- p.Asp419Tyr Single submitter ⚠
- p.Gln324His Single submitter ⚠
- p.Gln393Arg Single submitter ⚠
- p.Gln437Arg Single submitter ⚠
- p.Gly185Ala Single submitter ⚠
- p.Gly268Arg Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Gly415Glu Single submitter ⚠
- p.Ile399Phe Single submitter ⚠
- p.Ile543Val Single submitter ⚠
- p.Ile70Phe Single submitter ⚠
- p.Leu140fs Single submitter
- p.Leu264Arg Single submitter ⚠
- p.Leu513Val Single submitter ⚠
- p.Met481Lys Single submitter ⚠
- p.Met514Thr Single submitter ⚠
- p.Met523Leu Single submitter ⚠
- p.Met549Leu Single submitter ⚠
- p.Phe240Tyr Single submitter ⚠
- p.Phe39Val Single submitter ⚠
- p.Phe507Val Single submitter ⚠
- p.Phe650Leu Single submitter ⚠
- p.Pro290Arg Single submitter ⚠
- p.Pro485Thr Single submitter ⚠
- p.Pro593Ser Single submitter ⚠
- p.Pro99Ala Single submitter ⚠
- p.Ser205Pro Single submitter ⚠
- p.Ser255Arg Single submitter ⚠
- p.Ser302Pro Single submitter ⚠
- p.Ser372Tyr Single submitter ⚠
- p.Thr150Arg Single submitter ⚠
- p.Thr512Ser Single submitter ⚠
- p.Thr579Met Single submitter ⚠
- p.Trp379Arg Single submitter ⚠
- p.Tyr645Cys Single submitter ⚠
- p.Tyr654Cys Single submitter ⚠
- p.Val408Leu Single submitter ⚠
- p.Val445Leu Single submitter ⚠
- p.Val449Ala Single submitter ⚠
- p.Val631Met Single submitter ⚠