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NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 4, 2020
Accession:
VCV000666509.2
Variation ID:
666509
Description:
single nucleotide variant
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NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile)

Allele ID
654059
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108142464 (GRCh38) GRCh38 UCSC
11: 108013191 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108142464C>T
NC_000011.9:g.108013191C>T
NM_000019.4:c.854C>T MANE Select NP_000010.1:p.Thr285Ile missense
... more HGVS
Protein change
T285I
Other names
-
Canonical SPDI
NC_000011.10:108142463:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1239221388
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Mar 4, 2020 RCV000844816.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACAT1 - - GRCh38
GRCh37
345 365

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 05, 2019)
criteria provided, single submitter
Method: literature only
Deficiency of acetyl-CoA acetyltransferase
Allele origin: germline
Department of Pediatrics, Gifu University
Accession: SCV000966092.1
Submitted: (May 12, 2019)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Mar 04, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of acetyl-CoA acetyltransferase
Allele origin: germline
Invitae
Accession: SCV001558583.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces threonine with isoleucine at codon 285 of the ACAT1 protein (p.Thr285Ile). The threonine residue is moderately conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. Abdelkreem E Human mutation 2019 PMID: 31268215
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. Al-Shamsi A Sultan Qaboos University medical journal 2014 PMID: 24516753

Text-mined citations for rs1239221388...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 18, 2021