ACR — 80 ClinVar variants

All ClinVar germline ACR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

1 Pathogenic · 4 Benign · 6 Likely benign · 69 Uncertain significance

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

⚑ Evidence disagreements 71

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 46

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 25

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

All ACR variants

Pathogenic 1

p.Trp56Ter No assertion criteria spermatogenic failure 87

Benign 4

c.566-4A>G Multiple submitters
p.Met296Val Multiple submitters
p.Met1Val Single submitter
p.Thr24Met Single submitter ⚠

Likely benign 6

p.Arg295His Single submitter
p.Asn22= Single submitter
p.Pro221Ser Single submitter
p.Pro337Ser Single submitter ⚠
p.Thr420Ser Single submitter
p.Val219Ile Single submitter

Uncertain significance 69

p.Ala226Thr Single submitter ⚠
p.Ala267Ser Single submitter ⚠
p.Ala293Thr Single submitter ⚠
p.Ala48Ser Single submitter ⚠
p.Arg156Cys Single submitter ⚠
p.Arg156His Single submitter ⚠
p.Arg156Leu Single submitter ⚠
p.Arg172Ser Single submitter ⚠
p.Arg200His Single submitter ⚠
p.Arg200Pro Single submitter ⚠
p.Arg268Cys Single submitter ⚠
p.Arg295Cys Single submitter ⚠
p.Arg32Pro Single submitter ⚠
p.Arg333Gln Single submitter ⚠
p.Arg338Gln Single submitter ⚠
p.Arg338Gly Single submitter ⚠
p.Arg338Pro Single submitter ⚠
p.Asn223Ser Single submitter ⚠
p.Asn95Ser Single submitter ⚠
p.Asp142Asn Single submitter ⚠
p.Asp205Glu Single submitter ⚠
p.Asp402Ala Single submitter ⚠
p.Asp408Asn Single submitter ⚠
p.Gln213His Single submitter ⚠
p.Gly104Arg Single submitter ⚠
p.Gly263Glu Single submitter ⚠
p.Gly273Arg Single submitter ⚠
p.Gly30Trp Single submitter ⚠
p.Gly397Arg Single submitter ⚠
p.Gly46Arg Single submitter ⚠
p.Gly75Arg Single submitter ⚠
p.His406Arg Single submitter ⚠
p.His88Arg Single submitter ⚠
p.Ile185Thr Single submitter ⚠
p.Ile312Val Single submitter ⚠
p.Lys288Glu Single submitter ⚠
p.Met197Leu Single submitter ⚠
p.Met245Ile Single submitter ⚠
p.Met296Ile Single submitter ⚠
p.Met57Thr Single submitter ⚠
p.Phe63Tyr Single submitter ⚠
p.Pro160Leu Single submitter ⚠
p.Pro305Leu Single submitter ⚠
p.Pro309Leu Single submitter ⚠
p.Pro310Leu Single submitter ⚠
p.Pro311Leu Single submitter ⚠
p.Pro330Ser Single submitter ⚠
p.Pro331Ser Single submitter ⚠
p.Pro332Arg Single submitter ⚠
p.Pro332Ser Single submitter ⚠
p.Pro339Thr Single submitter ⚠
p.Pro340Gln Single submitter ⚠
p.Pro340Leu Single submitter ⚠
p.Pro348Leu Single submitter ⚠
p.Pro366Leu Single submitter ⚠
p.Pro367Ser Single submitter ⚠
p.Ser240Ile Single submitter ⚠
p.Ser299Leu Single submitter ⚠
p.Ser419Leu Single submitter ⚠
p.Thr235Asn Single submitter ⚠
p.Thr276Met Single submitter ⚠
p.Thr418Ile Single submitter ⚠
p.Thr420Ile Single submitter ⚠
p.Thr64Met Single submitter ⚠
p.Trp182Cys Single submitter ⚠
p.Val17Met Single submitter ⚠
p.Val264Ala Single submitter ⚠
p.Val2Ala Single submitter ⚠
p.Val44Ile Single submitter ⚠