ACKR1 — 50 ClinVar variants
All ClinVar germline ACKR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
2 Pathogenic · 3 Benign · 5 Likely benign · 40 Uncertain significance
Full ACKR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACKR1 p.Ala49Val Uncertain significance Single submitter
- ACKR1 p.Asn244Ser Uncertain significance Single submitter
- ACKR1 p.Gln161Arg Uncertain significance Single submitter
- ACKR1 p.Gln279Glu Uncertain significance Single submitter
- ACKR1 p.Gly105Asp Uncertain significance Single submitter
- ACKR1 p.Gly39Glu Uncertain significance Single submitter
- ACKR1 p.Leu179Val Uncertain significance Single submitter
- ACKR1 p.Leu83Ile Uncertain significance Single submitter
- ACKR1 p.Met243Ile Uncertain significance Single submitter
- ACKR1 p.Met82Arg Uncertain significance Single submitter
- ACKR1 p.Met82Thr Uncertain significance Single submitter
- ACKR1 p.Pro118Arg Uncertain significance Single submitter
- ACKR1 p.Pro12Leu Uncertain significance Single submitter
- ACKR1 p.Pro320Ser Uncertain significance Single submitter
- ACKR1 p.Pro63His Uncertain significance Single submitter
- ACKR1 p.Pro86Ser Uncertain significance Single submitter
- ACKR1 p.Ser122Arg Uncertain significance Single submitter
- ACKR1 p.Thr123Ile Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- ACKR1 p.Ala144Pro Uncertain significance Single submitter
- ACKR1 p.Asp283Gly Uncertain significance Single submitter
- ACKR1 p.Cys51Trp Uncertain significance Single submitter
- ACKR1 p.Gln207Pro Uncertain significance Single submitter
- ACKR1 p.Glu15Lys Uncertain significance Single submitter
- ACKR1 p.Glu23Lys Uncertain significance Single submitter
- ACKR1 p.Gly119Glu Uncertain significance Single submitter
- ACKR1 p.Gly192Cys Uncertain significance Single submitter
- ACKR1 p.Gly227Glu Uncertain significance Single submitter
- ACKR1 p.Phe65Leu Uncertain significance Single submitter
- ACKR1 p.Phe88Leu Uncertain significance Single submitter
- ACKR1 p.Pro94Arg Uncertain significance Single submitter
- ACKR1 p.Ser200Ile Uncertain significance Single submitter
- ACKR1 p.Ser76Asn Uncertain significance Single submitter
- ACKR1 p.Ser77Asn Uncertain significance Single submitter
- ACKR1 p.Thr14Ile Uncertain significance Single submitter
- ACKR1 p.Thr300Met Uncertain significance Single submitter
- ACKR1 p.Tyr30Cys Uncertain significance Single submitter
- ACKR1 p.Val219Ile Uncertain significance Single submitter
- ACKR1 p.Val258Met Uncertain significance Single submitter
- ACKR1 p.Val32Met Uncertain significance Single submitter
- ACKR1 p.Val79Ala Uncertain significance Single submitter
-
ACKR1 p.Ala100Thr
Benign
No assertion criteria
ACKR1-related disorder
All ACKR1 variants
Pathogenic 2
Benign 3
- p.Gly238= Multiple submitters
- p.Gly42Asp Multiple submitters
- p.Ala100Thr No assertion criteria ACKR1-related disorder ⚠
Likely benign 5
- p.Arg89Cys Multiple submitters ACKR1-related disorder
- p.Arg124His Single submitter
- p.Val115Ile Single submitter
- c.-74G>A No assertion criteria ACKR1-related disorder
- p.Thr201= No assertion criteria ACKR1-related disorder
Uncertain significance 40
- p.Ala144Pro Single submitter ⚠
- p.Ala49Val Single submitter ⚠
- p.Asn244Ser Single submitter ⚠
- p.Asp283Gly Single submitter ⚠
- p.Cys51Trp Single submitter ⚠
- p.Gln161Arg Single submitter ⚠
- p.Gln207Pro Single submitter ⚠
- p.Gln279Glu Single submitter ⚠
- p.Glu15Lys Single submitter ⚠
- p.Glu23Lys Single submitter ⚠
- p.Gly105Asp Single submitter ⚠
- p.Gly119Glu Single submitter ⚠
- p.Gly192Cys Single submitter ⚠
- p.Gly227Glu Single submitter ⚠
- p.Gly39Glu Single submitter ⚠
- p.Leu179Val Single submitter ⚠
- p.Leu83Ile Single submitter ⚠
- p.Met243Ile Single submitter ⚠
- p.Met82Arg Single submitter ⚠
- p.Met82Thr Single submitter ⚠
- p.Phe65Leu Single submitter ⚠
- p.Phe88Leu Single submitter ⚠
- p.Pro118Arg Single submitter ⚠
- p.Pro12Leu Single submitter ⚠
- p.Pro320Ser Single submitter ⚠
- p.Pro63His Single submitter ⚠
- p.Pro86Ser Single submitter ⚠
- p.Pro94Arg Single submitter ⚠
- p.Ser122Arg Single submitter ⚠
- p.Ser200Ile Single submitter ⚠
- p.Ser76Asn Single submitter ⚠
- p.Ser77Asn Single submitter ⚠
- p.Thr123Ile Single submitter ⚠
- p.Thr14Ile Single submitter ⚠
- p.Thr300Met Single submitter ⚠
- p.Tyr30Cys Single submitter ⚠
- p.Val219Ile Single submitter ⚠
- p.Val258Met Single submitter ⚠
- p.Val32Met Single submitter ⚠
- p.Val79Ala Single submitter ⚠