CCR2 — 55 ClinVar variants
All ClinVar germline CCR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
5 Pathogenic · 1 Likely pathogenic · 4 Benign · 6 Likely benign · 39 Uncertain significance
Full CCR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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CCR2 c.*1179G>A
Uncertain significance
Multiple submitters
susceptibility to HIV infection
- CCR2 c.*1068C>A Uncertain significance Single submitter
- CCR2 c.*1141C>A Uncertain significance Single submitter
- CCR2 c.*1168A>G Uncertain significance Single submitter
- CCR2 c.*1176C>G Uncertain significance Single submitter
- CCR2 c.*1198A>G Uncertain significance Single submitter
- CCR2 c.*1218G>A Uncertain significance Single submitter
- CCR2 c.*1222C>G Uncertain significance Single submitter
- CCR2 c.*1243G>C Uncertain significance Single submitter
- CCR2 c.*1246C>G Uncertain significance Single submitter
- CCR2 p.Arg196Gln Uncertain significance Single submitter
- CCR2 p.Arg231Leu Uncertain significance Single submitter
- CCR2 p.Asn276Thr Uncertain significance Single submitter
- CCR2 p.Asp25Glu Uncertain significance Single submitter
- CCR2 p.Gln282Lys Uncertain significance Single submitter
-
CCR2 p.Gln43His
Uncertain significance
Single submitter
cystic disease of lung
- CCR2 p.Glu310Lys Uncertain significance Single submitter
- CCR2 p.Gly157Glu Uncertain significance Single submitter
- CCR2 p.Gly210Arg Uncertain significance Single submitter
- CCR2 p.Gly41Val Uncertain significance Single submitter
- CCR2 p.His121Asn Uncertain significance Single submitter
- CCR2 p.Ile132Leu Uncertain significance Single submitter
- CCR2 p.Ile261Val Uncertain significance Single submitter
- CCR2 p.Ile54Leu Uncertain significance Single submitter
- CCR2 p.Ile93Val Uncertain significance Single submitter
- CCR2 p.Leu133Phe Uncertain significance Single submitter
- CCR2 p.Leu230Phe Uncertain significance Single submitter
- CCR2 p.Leu48Phe Uncertain significance Single submitter
- CCR2 p.Lys183Arg Uncertain significance Single submitter
- CCR2 p.Lys38Arg Uncertain significance Single submitter
- CCR2 p.Lys74Arg Uncertain significance Single submitter
- CCR2 p.Met205Ile Uncertain significance Single submitter
- CCR2 p.Thr153Lys Uncertain significance Single submitter
- CCR2 p.Tyr188His Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CCR2 p.Arg238Ser Uncertain significance Single submitter
- CCR2 p.Gly123Ser Uncertain significance Single submitter
- CCR2 p.Lys72Thr Uncertain significance Single submitter
- CCR2 p.Phe24Leu Uncertain significance Single submitter
-
CCR2 p.Met61Arg
Pathogenic
No assertion criteria
cystic disease of lung
-
CCR2 p.Thr296Asn
Pathogenic
No assertion criteria
cystic disease of lung
All CCR2 variants
Pathogenic 5
- p.Leu119Arg No assertion criteria cystic disease of lung
- p.Met61Arg No assertion criteria cystic disease of lung ⚠
- p.Pro214_Leu215del No assertion criteria cystic disease of lung
- p.Thr21fs No assertion criteria cystic disease of lung
- p.Thr296Asn No assertion criteria cystic disease of lung ⚠
Likely pathogenic 1
- p.Arg196Ter Single submitter cystic disease of lung
Benign 4
- p.Val52= Multiple submitters
- c.*1189G>A No assertion criteria CCR2-related disorder
- p.Asn260= No assertion criteria CCR2-related disorder
- p.Thr348= No assertion criteria CCR2-related disorder
Likely benign 6
- p.Gly126= Single submitter
- p.Val159Leu Single submitter cystic disease of lung
- p.Val219Ile Single submitter
- p.Val63= Single submitter
- p.Leu216= No assertion criteria CCR2-related disorder
- p.Leu283= No assertion criteria CCR2-related disorder
Uncertain significance 39
- c.*1179G>A Multiple submitters susceptibility to HIV infection ⚠
- c.*1068C>A Single submitter ⚠
- c.*1141C>A Single submitter ⚠
- c.*1168A>G Single submitter ⚠
- c.*1176C>G Single submitter ⚠
- c.*1198A>G Single submitter ⚠
- c.*1218G>A Single submitter ⚠
- c.*1222C>G Single submitter ⚠
- c.*1243G>C Single submitter ⚠
- c.*1246C>G Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
- p.Arg231Leu Single submitter ⚠
- p.Arg238Ser Single submitter ⚠
- p.Asn276Thr Single submitter ⚠
- p.Asp25Glu Single submitter ⚠
- p.Gln282Lys Single submitter ⚠
- p.Gln43His Single submitter cystic disease of lung ⚠
- p.Glu310Lys Single submitter ⚠
- p.Gly123Ser Single submitter ⚠
- p.Gly157Glu Single submitter ⚠
- p.Gly210Arg Single submitter ⚠
- p.Gly41Val Single submitter ⚠
- p.His121Asn Single submitter ⚠
- p.Ile132Leu Single submitter ⚠
- p.Ile261Val Single submitter ⚠
- p.Ile54Leu Single submitter ⚠
- p.Ile93Val Single submitter ⚠
- p.Leu133Phe Single submitter ⚠
- p.Leu230Phe Single submitter ⚠
- p.Leu48Phe Single submitter ⚠
- p.Lys183Arg Single submitter ⚠
- p.Lys38Arg Single submitter ⚠
- p.Lys72Thr Single submitter ⚠
- p.Lys74Arg Single submitter ⚠
- p.Met205Ile Single submitter ⚠
- p.Phe24Leu Single submitter ⚠
- p.Thr153Lys Single submitter ⚠
- p.Thr348Met Single submitter susceptibility to HIV infection
- p.Tyr188His Single submitter ⚠