CCR5 — 38 ClinVar variants
All ClinVar germline CCR5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
5 Benign · 4 Likely benign · 29 Uncertain significance
Full CCR5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCR5 p.Ala298Asp Uncertain significance Single submitter
- CCR5 p.Ala91Val Uncertain significance Single submitter
- CCR5 p.Ala92Thr Uncertain significance Single submitter
- CCR5 p.Arg274Lys Uncertain significance Single submitter
- CCR5 p.Arg31His Uncertain significance Single submitter
- CCR5 p.Arg341Gln Uncertain significance Single submitter
- CCR5 p.Gly344Glu Uncertain significance Single submitter
- CCR5 p.Ile120Val Uncertain significance Single submitter
- CCR5 p.Ile292Val Uncertain significance Single submitter
- CCR5 p.Leu39Arg Uncertain significance Single submitter
- CCR5 p.Phe327Ser Uncertain significance Single submitter
- CCR5 p.Ser272Pro Uncertain significance Single submitter
- CCR5 p.Thr99Ser Uncertain significance Single submitter
- CCR5 p.Val338Ile Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
-
CCR5 p.Ser63Cys
Uncertain significance
Multiple submitters
West Nile virus, susceptibility to
- CCR5 p.Arg168Gly Uncertain significance Single submitter
- CCR5 p.Arg223Gln Benign Single submitter
- CCR5 p.Glu18Lys Uncertain significance Single submitter
- CCR5 p.Gly173Cys Uncertain significance Single submitter
- CCR5 p.Ile110Thr Uncertain significance Single submitter
- CCR5 p.Leu137Phe Uncertain significance Single submitter
- CCR5 p.Lys303Arg Uncertain significance Single submitter
- CCR5 p.Met287Ile Uncertain significance Single submitter
- CCR5 p.Phe247Ser Uncertain significance Single submitter
- CCR5 p.Ser337Leu Uncertain significance Single submitter
-
CCR5 p.Thr239Ala
Uncertain significance
Single submitter
CCR5-related disorder
- CCR5 p.Tyr108His Uncertain significance Single submitter
- CCR5 p.Tyr214Cys Uncertain significance Single submitter
- CCR5 p.Val25Glu Uncertain significance Single submitter
- CCR5 p.Ile164Met Uncertain significance No assertion criteria
All CCR5 variants
Benign 5
- c.-229C>T Single submitter
- p.Ala335Val Single submitter
- p.Arg223Gln Single submitter ⚠
- p.Ser185fs Single submitter susceptibility to HIV infection
- p.Phe299fs No assertion criteria CCR5 POLYMORPHISM, ORIENTAL 1
Likely benign 4
- p.Gly106Arg No assertion criteria CCR5-related disorder
- p.Ile23= No assertion criteria CCR5-related disorder
- p.Phe247= No assertion criteria CCR5-related disorder
- p.Thr141= No assertion criteria CCR5-related disorder
Uncertain significance 29
- p.Ser63Cys Multiple submitters West Nile virus, susceptibility to ⚠
- p.Ala298Asp Single submitter ⚠
- p.Ala91Val Single submitter ⚠
- p.Ala92Thr Single submitter ⚠
- p.Arg168Gly Single submitter ⚠
- p.Arg274Lys Single submitter ⚠
- p.Arg31His Single submitter ⚠
- p.Arg341Gln Single submitter ⚠
- p.Glu18Lys Single submitter ⚠
- p.Gly173Cys Single submitter ⚠
- p.Gly344Glu Single submitter ⚠
- p.Ile110Thr Single submitter ⚠
- p.Ile120Val Single submitter ⚠
- p.Ile292Val Single submitter ⚠
- p.Leu137Phe Single submitter ⚠
- p.Leu39Arg Single submitter ⚠
- p.Lys303Arg Single submitter ⚠
- p.Met287Ile Single submitter ⚠
- p.Phe247Ser Single submitter ⚠
- p.Phe327Ser Single submitter ⚠
- p.Ser272Pro Single submitter ⚠
- p.Ser337Leu Single submitter ⚠
- p.Thr239Ala Single submitter CCR5-related disorder ⚠
- p.Thr99Ser Single submitter ⚠
- p.Tyr108His Single submitter ⚠
- p.Tyr214Cys Single submitter ⚠
- p.Val25Glu Single submitter ⚠
- p.Val338Ile Single submitter ⚠
- p.Ile164Met No assertion criteria ⚠