ACSS2 — 98 ClinVar variants
All ClinVar germline ACSS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →
7 Benign · 13 Likely benign · 78 Uncertain significance
Full ACSS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 77
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACSS2 p.Ala233Asp Uncertain significance Single submitter
- ACSS2 p.Ala430Ser Uncertain significance Single submitter
- ACSS2 p.Ala456Ser Uncertain significance Single submitter
- ACSS2 p.Arg255Gln Uncertain significance Single submitter
- ACSS2 p.Arg27Pro Uncertain significance Single submitter
- ACSS2 p.Arg414His Uncertain significance Single submitter
- ACSS2 p.Arg527Cys Uncertain significance Single submitter
- ACSS2 p.Arg527His Uncertain significance Single submitter
- ACSS2 p.Arg556Trp Uncertain significance Single submitter
- ACSS2 p.Asn502Ser Uncertain significance Single submitter
- ACSS2 p.Asp231His Uncertain significance Single submitter
- ACSS2 p.Gln45Arg Uncertain significance Single submitter
- ACSS2 p.Glu308Lys Uncertain significance Single submitter
- ACSS2 p.Glu57Asp Uncertain significance Single submitter
- ACSS2 p.Glu592Lys Uncertain significance Single submitter
- ACSS2 p.Gly608Ser Uncertain significance Single submitter
- ACSS2 p.Gly608Val Uncertain significance Single submitter
- ACSS2 p.Gly678Arg Uncertain significance Single submitter
- ACSS2 p.Ile157Thr Uncertain significance Single submitter
- ACSS2 p.Ile385Thr Uncertain significance Single submitter
- ACSS2 p.Ile642Asn Uncertain significance Single submitter
- ACSS2 p.Ile642Thr Uncertain significance Single submitter
- ACSS2 p.Leu311Arg Uncertain significance Single submitter
- ACSS2 p.Leu381Ser Uncertain significance Single submitter
- ACSS2 p.Met167Ile Uncertain significance Single submitter
- ACSS2 p.Pro269Thr Uncertain significance Single submitter
- ACSS2 p.Pro477Arg Uncertain significance Single submitter
- ACSS2 p.Pro652Ala Uncertain significance Single submitter
- ACSS2 p.Ser10Arg Uncertain significance Single submitter
- ACSS2 p.Ser694Asn Uncertain significance Single submitter
- ACSS2 p.Thr363Ile Uncertain significance Single submitter
- ACSS2 p.Thr408Ala Uncertain significance Single submitter
- ACSS2 p.Thr682Pro Uncertain significance Single submitter
- ACSS2 p.Val368Ile Uncertain significance Single submitter
- ACSS2 p.Val41Ile Uncertain significance Single submitter
- ACSS2 p.Val55Leu Uncertain significance Single submitter
Predictors split 41
The independent predictors disagree with each other — read with care.
- ACSS2 p.Cys300Ser Benign Multiple submitters
- ACSS2 p.Ala181Val Uncertain significance Single submitter
- ACSS2 p.Ala446Val Uncertain significance Single submitter
- ACSS2 p.Ala481Thr Uncertain significance Single submitter
- ACSS2 p.Ala512Thr Uncertain significance Single submitter
- ACSS2 p.Arg429Gln Uncertain significance Single submitter
- ACSS2 p.Arg458His Uncertain significance Single submitter
- ACSS2 p.Arg52Pro Uncertain significance Single submitter
- ACSS2 p.Arg696Cys Uncertain significance Single submitter
- ACSS2 p.Arg81Trp Uncertain significance Single submitter
- ACSS2 p.Asp421Val Uncertain significance Single submitter
- ACSS2 p.Cys200Arg Uncertain significance Single submitter
- ACSS2 p.Gln147Leu Uncertain significance Single submitter
- ACSS2 p.Glu172Asp Uncertain significance Single submitter
- ACSS2 p.Glu301Lys Uncertain significance Single submitter
- ACSS2 p.Glu445Gln Uncertain significance Single submitter
- ACSS2 p.Glu507Lys Uncertain significance Single submitter
- ACSS2 p.Glu537Lys Uncertain significance Single submitter
- ACSS2 p.Glu94Lys Uncertain significance Single submitter
- ACSS2 p.Gly487Ser Uncertain significance Single submitter
- ACSS2 p.Gly553Ala Uncertain significance Single submitter
- ACSS2 p.Gly620Ser Uncertain significance Single submitter
- ACSS2 p.Ile639Thr Uncertain significance Single submitter
- ACSS2 p.Lys400Gln Uncertain significance Single submitter
- ACSS2 p.Lys633Arg Uncertain significance Single submitter
- ACSS2 p.Phe491Ser Uncertain significance Single submitter
- ACSS2 p.Pro479Ala Uncertain significance Single submitter
- ACSS2 p.Pro483His Uncertain significance Single submitter
- ACSS2 p.Ser149Gly Uncertain significance Single submitter
- ACSS2 p.Ser504Tyr Uncertain significance Single submitter
- ACSS2 p.Thr339Ile Uncertain significance Single submitter
- ACSS2 p.Thr565Ile Uncertain significance Single submitter
- ACSS2 p.Trp29Cys Uncertain significance Single submitter
- ACSS2 p.Trp29Ser Uncertain significance Single submitter
- ACSS2 p.Tyr336Cys Uncertain significance Single submitter
- ACSS2 p.Tyr82Phe Uncertain significance Single submitter
- ACSS2 p.Val391Met Uncertain significance Single submitter
- ACSS2 p.Val496Ala Uncertain significance Single submitter
- ACSS2 p.Val594Ile Likely benign Single submitter
-
ACSS2 p.Arg153Gln
Uncertain significance
No assertion criteria
ACSS2-related disorder
-
ACSS2 p.Arg696His
Uncertain significance
No assertion criteria
ACSS2-related disorder
All ACSS2 variants
Benign 7
- p.Cys300Ser Multiple submitters ⚠
- p.Pro42Thr Multiple submitters
- c.972+5GT[23] Single submitter
- c.972+5GT[24] Single submitter
- p.Ser586= Single submitter
- p.His252= No assertion criteria ACSS2-related disorder
- p.Val330Ala No assertion criteria ACSS2-related disorder
Likely benign 13
- p.Arg452Gln Single submitter
- p.Arg81Gln Single submitter
- p.Ile270Val Single submitter
- p.Met260Thr Single submitter
- p.Val453= Single submitter
- p.Val594Ile Single submitter ⚠
- p.Ala307= No assertion criteria ACSS2-related disorder
- p.Asp309= No assertion criteria ACSS2-related disorder
- p.Lys342= No assertion criteria ACSS2-related disorder
- p.Pro486= No assertion criteria ACSS2-related disorder
- p.Thr137= No assertion criteria ACSS2-related disorder
- p.Thr628= No assertion criteria ACSS2-related disorder
- p.Val107Leu No assertion criteria ACSS2-related disorder
Uncertain significance 78
- c.834+791A>T Single submitter
- c.834+805C>T Single submitter
- c.834+806G>A Single submitter
- p.Ala181Val Single submitter ⚠
- p.Ala233Asp Single submitter ⚠
- p.Ala430Ser Single submitter ⚠
- p.Ala446Val Single submitter ⚠
- p.Ala456Ser Single submitter ⚠
- p.Ala481Thr Single submitter ⚠
- p.Ala512Thr Single submitter ⚠
- p.Arg255Gln Single submitter ⚠
- p.Arg27Pro Single submitter ⚠
- p.Arg414His Single submitter ⚠
- p.Arg429Gln Single submitter ⚠
- p.Arg458His Single submitter ⚠
- p.Arg527Cys Single submitter ⚠
- p.Arg527His Single submitter ⚠
- p.Arg52Pro Single submitter ⚠
- p.Arg556Trp Single submitter ⚠
- p.Arg696Cys Single submitter ⚠
- p.Arg81Trp Single submitter ⚠
- p.Asn502Ser Single submitter ⚠
- p.Asp231His Single submitter ⚠
- p.Asp421Val Single submitter ⚠
- p.Cys200Arg Single submitter ⚠
- p.Gln147Leu Single submitter ⚠
- p.Gln45Arg Single submitter ⚠
- p.Glu172Asp Single submitter ⚠
- p.Glu301Lys Single submitter ⚠
- p.Glu308Lys Single submitter ⚠
- p.Glu445Gln Single submitter ⚠
- p.Glu507Lys Single submitter ⚠
- p.Glu537Lys Single submitter ⚠
- p.Glu57Asp Single submitter ⚠
- p.Glu592Lys Single submitter ⚠
- p.Glu94Lys Single submitter ⚠
- p.Gly487Ser Single submitter ⚠
- p.Gly553Ala Single submitter ⚠
- p.Gly608Ser Single submitter ⚠
- p.Gly608Val Single submitter ⚠
- p.Gly620Ser Single submitter ⚠
- p.Gly678Arg Single submitter ⚠
- p.Ile157Thr Single submitter ⚠
- p.Ile385Thr Single submitter ⚠
- p.Ile639Thr Single submitter ⚠
- p.Ile642Asn Single submitter ⚠
- p.Ile642Thr Single submitter ⚠
- p.Leu311Arg Single submitter ⚠
- p.Leu381Ser Single submitter ⚠
- p.Lys400Gln Single submitter ⚠
- p.Lys633Arg Single submitter ⚠
- p.Met167Ile Single submitter ⚠
- p.Phe491Ser Single submitter ⚠
- p.Pro269Thr Single submitter ⚠
- p.Pro477Arg Single submitter ⚠
- p.Pro479Ala Single submitter ⚠
- p.Pro483His Single submitter ⚠
- p.Pro652Ala Single submitter ⚠
- p.Ser10Arg Single submitter ⚠
- p.Ser149Gly Single submitter ⚠
- p.Ser504Tyr Single submitter ⚠
- p.Ser694Asn Single submitter ⚠
- p.Thr339Ile Single submitter ⚠
- p.Thr363Ile Single submitter ⚠
- p.Thr408Ala Single submitter ⚠
- p.Thr565Ile Single submitter ⚠
- p.Thr682Pro Single submitter ⚠
- p.Trp29Cys Single submitter ⚠
- p.Trp29Ser Single submitter ⚠
- p.Tyr336Cys Single submitter ⚠
- p.Tyr82Phe Single submitter ⚠
- p.Val368Ile Single submitter ⚠
- p.Val391Met Single submitter ⚠
- p.Val41Ile Single submitter ⚠
- p.Val496Ala Single submitter ⚠
- p.Val55Leu Single submitter ⚠
- p.Arg153Gln No assertion criteria ACSS2-related disorder ⚠
- p.Arg696His No assertion criteria ACSS2-related disorder ⚠