ACSS1 — 75 ClinVar variants
All ClinVar germline ACSS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →
2 Benign · 5 Likely benign · 68 Uncertain significance
Full ACSS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 70
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACSS1 p.Ala454Thr Uncertain significance Single submitter
- ACSS1 p.Ala602Val Uncertain significance Single submitter
- ACSS1 p.Ala656Val Uncertain significance Single submitter
- ACSS1 p.Ala688Thr Uncertain significance Single submitter
- ACSS1 p.Arg35Leu Uncertain significance Single submitter
- ACSS1 p.Arg392Gln Uncertain significance Single submitter
- ACSS1 p.Arg559Trp Uncertain significance Single submitter
- ACSS1 p.Arg649Lys Uncertain significance Single submitter
- ACSS1 p.Asp513Asn Uncertain significance Single submitter
- ACSS1 p.Asp661Gly Uncertain significance Single submitter
- ACSS1 p.Gln221Glu Uncertain significance Single submitter
- ACSS1 p.Gln269Glu Uncertain significance Single submitter
- ACSS1 p.Gly22Arg Uncertain significance Single submitter
- ACSS1 p.Gly30Arg Uncertain significance Single submitter
- ACSS1 p.Gly532Glu Uncertain significance Single submitter
- ACSS1 p.Leu480Ile Uncertain significance Single submitter
- ACSS1 p.Lys523Thr Uncertain significance Single submitter
- ACSS1 p.Pro266Leu Uncertain significance Single submitter
- ACSS1 p.Pro27Leu Uncertain significance Single submitter
- ACSS1 p.Pro28Leu Uncertain significance Single submitter
- ACSS1 p.Pro34Gln Uncertain significance Single submitter
- ACSS1 p.Pro668Ser Uncertain significance Single submitter
- ACSS1 p.Ser32Arg Uncertain significance Single submitter
- ACSS1 p.Ser44Arg Uncertain significance Single submitter
- ACSS1 p.Ser669Thr Uncertain significance Single submitter
- ACSS1 p.Ser676Thr Uncertain significance Single submitter
- ACSS1 p.Thr662Ile Uncertain significance Single submitter
- ACSS1 p.Thr85Asn Uncertain significance Single submitter
- ACSS1 p.Val174Met Uncertain significance Single submitter
Predictors split 41
The independent predictors disagree with each other — read with care.
- ACSS1 p.Val479Ile Benign Multiple submitters
- ACSS1 p.Ala181Gly Uncertain significance Single submitter
- ACSS1 p.Ala211Val Uncertain significance Single submitter
- ACSS1 p.Ala279Thr Uncertain significance Single submitter
- ACSS1 p.Ala316Thr Uncertain significance Single submitter
- ACSS1 p.Ala37Glu Uncertain significance Single submitter
- ACSS1 p.Ala60Thr Uncertain significance Single submitter
- ACSS1 p.Arg120Trp Uncertain significance Single submitter
- ACSS1 p.Arg132Cys Uncertain significance Single submitter
- ACSS1 p.Arg164Cys Uncertain significance Single submitter
- ACSS1 p.Arg164Gly Uncertain significance Single submitter
- ACSS1 p.Arg411Trp Uncertain significance Single submitter
- ACSS1 p.Arg516Leu Uncertain significance Single submitter
- ACSS1 p.Arg67Trp Uncertain significance Single submitter
- ACSS1 p.Asp519Gly Uncertain significance Single submitter
- ACSS1 p.Asp683Asn Uncertain significance Single submitter
- ACSS1 p.Glu145Gly Uncertain significance Single submitter
- ACSS1 p.Glu489Gly Uncertain significance Single submitter
- ACSS1 p.Glu590Asp Uncertain significance Single submitter
- ACSS1 p.Gly161Arg Uncertain significance Single submitter
- ACSS1 p.Gly226Glu Uncertain significance Single submitter
- ACSS1 p.Gly349Ala Uncertain significance Single submitter
- ACSS1 p.Gly527Asp Uncertain significance Single submitter
- ACSS1 p.His325Arg Uncertain significance Single submitter
- ACSS1 p.Ile330Thr Uncertain significance Single submitter
- ACSS1 p.Leu351Phe Uncertain significance Single submitter
- ACSS1 p.Lys588Arg Uncertain significance Single submitter
- ACSS1 p.Pro472Ala Uncertain significance Single submitter
- ACSS1 p.Ser408Thr Uncertain significance Single submitter
- ACSS1 p.Ser494Phe Uncertain significance Single submitter
- ACSS1 p.Ser556Cys Uncertain significance Single submitter
- ACSS1 p.Ser654Ile Uncertain significance Single submitter
- ACSS1 p.Thr156Met Uncertain significance Single submitter
- ACSS1 p.Tyr405His Uncertain significance Single submitter
- ACSS1 p.Val126Ile Likely benign Single submitter
- ACSS1 p.Val168Ile Uncertain significance Single submitter
- ACSS1 p.Val194Ile Uncertain significance Single submitter
- ACSS1 p.Val245Met Uncertain significance Single submitter
- ACSS1 p.Val493Ile Uncertain significance Single submitter
- ACSS1 p.Val580Ile Uncertain significance Single submitter
- ACSS1 p.Val597Gly Uncertain significance Single submitter
All ACSS1 variants
Benign 2
- p.Val479Ile Multiple submitters ⚠
- p.Lys403= Single submitter
Likely benign 5
- c.432-1425C>T Single submitter
- p.Ala672Thr Single submitter
- p.Arg144= Single submitter
- p.Lys613Arg Single submitter
- p.Val126Ile Single submitter ⚠
Uncertain significance 68
- p.Ala181Gly Single submitter ⚠
- p.Ala211Val Single submitter ⚠
- p.Ala279Thr Single submitter ⚠
- p.Ala316Thr Single submitter ⚠
- p.Ala37Glu Single submitter ⚠
- p.Ala454Thr Single submitter ⚠
- p.Ala602Val Single submitter ⚠
- p.Ala60Thr Single submitter ⚠
- p.Ala656Val Single submitter ⚠
- p.Ala688Thr Single submitter ⚠
- p.Arg120Trp Single submitter ⚠
- p.Arg132Cys Single submitter ⚠
- p.Arg164Cys Single submitter ⚠
- p.Arg164Gly Single submitter ⚠
- p.Arg35Leu Single submitter ⚠
- p.Arg392Gln Single submitter ⚠
- p.Arg411Trp Single submitter ⚠
- p.Arg516Leu Single submitter ⚠
- p.Arg559Trp Single submitter ⚠
- p.Arg649Lys Single submitter ⚠
- p.Arg67Trp Single submitter ⚠
- p.Asp513Asn Single submitter ⚠
- p.Asp519Gly Single submitter ⚠
- p.Asp661Gly Single submitter ⚠
- p.Asp683Asn Single submitter ⚠
- p.Gln221Glu Single submitter ⚠
- p.Gln269Glu Single submitter ⚠
- p.Glu145Gly Single submitter ⚠
- p.Glu489Gly Single submitter ⚠
- p.Glu590Asp Single submitter ⚠
- p.Gly161Arg Single submitter ⚠
- p.Gly226Glu Single submitter ⚠
- p.Gly22Arg Single submitter ⚠
- p.Gly30Arg Single submitter ⚠
- p.Gly349Ala Single submitter ⚠
- p.Gly527Asp Single submitter ⚠
- p.Gly532Glu Single submitter ⚠
- p.His325Arg Single submitter ⚠
- p.Ile330Thr Single submitter ⚠
- p.Leu351Phe Single submitter ⚠
- p.Leu480Ile Single submitter ⚠
- p.Lys523Thr Single submitter ⚠
- p.Lys588Arg Single submitter ⚠
- p.Pro266Leu Single submitter ⚠
- p.Pro27Leu Single submitter ⚠
- p.Pro28Leu Single submitter ⚠
- p.Pro34Gln Single submitter ⚠
- p.Pro472Ala Single submitter ⚠
- p.Pro668Ser Single submitter ⚠
- p.Ser32Arg Single submitter ⚠
- p.Ser408Thr Single submitter ⚠
- p.Ser44Arg Single submitter ⚠
- p.Ser494Phe Single submitter ⚠
- p.Ser556Cys Single submitter ⚠
- p.Ser654Ile Single submitter ⚠
- p.Ser669Thr Single submitter ⚠
- p.Ser676Thr Single submitter ⚠
- p.Thr156Met Single submitter ⚠
- p.Thr662Ile Single submitter ⚠
- p.Thr85Asn Single submitter ⚠
- p.Tyr405His Single submitter ⚠
- p.Val168Ile Single submitter ⚠
- p.Val174Met Single submitter ⚠
- p.Val194Ile Single submitter ⚠
- p.Val245Met Single submitter ⚠
- p.Val493Ile Single submitter ⚠
- p.Val580Ile Single submitter ⚠
- p.Val597Gly Single submitter ⚠