ACKR3 — 44 ClinVar variants

All ClinVar germline ACKR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →

1 Pathogenic · 1 Conflicting · 3 Benign · 4 Likely benign · 35 Uncertain significance

Full ACKR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 37

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ACKR3 p.Val258Met Pathogenic No assertion criteria
oculomotor-abducens synkinesis

Predictors agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ACKR3 p.Val64Leu Conflicting Single submitter

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.

Predictors split 17

The independent predictors disagree with each other — read with care.

All ACKR3 variants

Pathogenic 1

p.Val258Met No assertion criteria oculomotor-abducens synkinesis ⚠

Conflicting classifications of pathogenicity 1

p.Val64Leu Single submitter ⚠

Benign 3

p.Ile210= Multiple submitters
p.Pro201= Multiple submitters
p.Val230Ile Multiple submitters

Likely benign 4

p.Gly211Ser Single submitter
p.Ile227Val Single submitter
p.Pro153Ser Single submitter
p.Val223Ile Single submitter

Uncertain significance 35

p.Ala229Gly Single submitter ⚠
p.Ala241Val Single submitter ⚠
p.Ala296Thr Single submitter ⚠
p.Arg162Cys Single submitter ⚠
p.Arg288Trp Single submitter ⚠
p.Asn191Lys Single submitter ⚠
p.Asn191Ser Single submitter ⚠
p.Asn192Ser Single submitter ⚠
p.Asn319His Single submitter ⚠
p.Asp141Glu Single submitter ⚠
p.Cys137Gly Single submitter ⚠
p.Glu351Lys Single submitter ⚠
p.Gly211Val Single submitter ⚠
p.His291Gln Single submitter ⚠
p.His307Pro Single submitter ⚠
p.Ile126Asn Single submitter ⚠
p.Ile331Val Single submitter ⚠
p.Ile88Ser Single submitter familial long QT syndrome ⚠
p.Met112Val Single submitter ⚠
p.Phe233Leu Single submitter ⚠
p.Ser335Ala Single submitter primary ovarian failure ⚠
p.Ser335Trp Single submitter ⚠
p.Thr116Met Single submitter ⚠
p.Thr187Met Single submitter ⚠
p.Thr295Met Single submitter ⚠
p.Thr31Met Single submitter ⚠
p.Thr46Ala Single submitter ⚠
p.Thr46Met Single submitter ⚠
p.Tyr77Cys Single submitter ⚠
p.Val105Met Single submitter ⚠
p.Val164Ile Single submitter ⚠
p.Val306Gly Single submitter ⚠
p.Val313Ile Single submitter ⚠
p.Val56Ile Single submitter ⚠
p.Val64Met Single submitter ⚠