ACSS3 — 95 ClinVar variants

All ClinVar germline ACSS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

6 Likely benign · 89 Uncertain significance

Full ACSS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

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 49

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

Predictors split 40

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

All ACSS3 variants

Likely benign 6

p.Arg231Lys Single submitter
p.Ile296Val Single submitter
p.Ile575Val Single submitter
p.Ser58Gly Single submitter
p.Ser668Pro Single submitter
p.Val235Ile Single submitter

Uncertain significance 89

p.Ala193Thr Single submitter ⚠
p.Ala262Glu Single submitter ⚠
p.Ala317Thr Single submitter ⚠
p.Ala377Thr Single submitter ⚠
p.Ala53Glu Single submitter ⚠
p.Ala570Thr Single submitter ⚠
p.Ala657Asp Single submitter ⚠
p.Ala80Val Single submitter ⚠
p.Arg119His Single submitter ⚠
p.Arg210His Single submitter ⚠
p.Arg230Lys Single submitter ⚠
p.Arg269Cys Single submitter ⚠
p.Arg28Leu Single submitter ⚠
p.Arg380Cys Single submitter ⚠
p.Arg401His Single submitter ⚠
p.Arg652Gln Single submitter ⚠
p.Asn115Asp Single submitter ⚠
p.Asn256Ser Single submitter ⚠
p.Asn490Ser Single submitter ⚠
p.Asp169Val Single submitter ⚠
p.Asp284Asn Single submitter ⚠
p.Asp488Gly Single submitter ⚠
p.Asp489Val Single submitter ⚠
p.Asp591His Single submitter ⚠
p.Cys584Ser Single submitter ⚠
p.Gln403Glu Single submitter ⚠
p.Gln403Pro Single submitter ⚠
p.Glu613Gly Single submitter ⚠
p.Glu618Gly Single submitter ⚠
p.Glu680Lys Single submitter ⚠
p.Gly126Arg Single submitter ⚠
p.Gly15Arg Single submitter ⚠
p.Gly164Asp Single submitter ⚠
p.Gly301Val Single submitter ⚠
p.Gly315Glu Single submitter ⚠
p.Gly333Arg Single submitter ⚠
p.Gly410Arg Single submitter ⚠
p.Gly57Arg Single submitter ⚠
p.Gly57Ser Single submitter ⚠
p.Gly59Asp Single submitter ⚠
p.His195Asn Single submitter ⚠
p.His292Gln Single submitter ⚠
p.His348Pro Single submitter ⚠
p.His596Arg Single submitter ⚠
p.Ile211Val Single submitter ⚠
p.Ile252Thr Single submitter ⚠
p.Ile327Thr Single submitter ⚠
p.Ile400Val Single submitter ⚠
p.Ile486Thr Single submitter ⚠
p.Leu320Pro Single submitter ⚠
p.Leu34Phe Single submitter ⚠
p.Leu445Val Single submitter ⚠
p.Lys155Arg Single submitter ⚠
p.Lys468Glu Single submitter ⚠
p.Lys589Glu Single submitter ⚠
p.Met109Arg Single submitter ⚠
p.Met324Val Single submitter ⚠
p.Met491Arg Single submitter ⚠
p.Phe440Ser Single submitter ⚠
p.Pro100Arg Single submitter ⚠
p.Pro100Thr Single submitter ⚠
p.Pro136Ala Single submitter ⚠
p.Pro176Ser Single submitter ⚠
p.Pro228His Single submitter ⚠
p.Pro228Thr Single submitter ⚠
p.Pro22His Single submitter ⚠
p.Pro332Leu Single submitter ⚠
p.Pro443Leu Single submitter ⚠
p.Pro456Leu Single submitter ⚠
p.Pro470Thr Single submitter ⚠
p.Ser101Cys Single submitter ⚠
p.Ser135Asn Single submitter ⚠
p.Ser196Gly Single submitter ⚠
p.Ser196Ile Single submitter ⚠
p.Ser460Thr Single submitter ⚠
p.Ser60Arg Single submitter ⚠
p.Ser99Trp Single submitter ⚠
p.Thr145Asn Single submitter ⚠
p.Thr420Ile Single submitter ⚠
p.Trp273Leu Single submitter ⚠
p.Trp435Gly Single submitter ⚠
p.Tyr183Phe Single submitter ⚠
p.Tyr527His Single submitter ⚠
p.Tyr87Phe Single submitter ⚠
p.Val137Ile Single submitter ⚠
p.Val218Met Single submitter ⚠
p.Val263Ile Single submitter ⚠
p.Val309Leu Single submitter ⚠
p.Val345Ile Single submitter ⚠