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NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 29, 2020
Accession:
VCV000002833.4
Variation ID:
2833
Description:
single nucleotide variant
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NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)

Allele ID
17872
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108139009 (GRCh38) GRCh38 UCSC
11: 108009736 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108139009G>A
NC_000011.9:g.108009736G>A
NM_000019.4:c.547G>A MANE Select NP_000010.1:p.Gly183Arg missense
... more HGVS
Protein change
G183R
Other names
G150R
Canonical SPDI
NC_000011.10:108139008:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA252462
UniProtKB: P24752#VAR_007501
OMIM: 607809.0002
dbSNP: rs120074141
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Mar 29, 2020 RCV000002967.4
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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
Likely pathogenic
(May 05, 2019)
criteria provided, single submitter
Method: research
Deficiency of acetyl-CoA acetyltransferase
Allele origin: germline
Department of Pediatrics, Gifu University
Accession: SCV000966065.1
Submitted: (May 12, 2019)
Evidence details
Publications
PubMed (1)
Pathogenic
(Mar 29, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of acetyl-CoA acetyltransferase
Allele origin: germline
Invitae
Accession: SCV001582981.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces glycine with arginine at codon 183 of the ACAT1 protein (p.Gly183Arg). The glycine residue is highly conserved and there is a … (more)
Pathogenic
(Feb 01, 1992)
no assertion criteria provided
Method: literature only
3-@KETOTHIOLASE DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000023125.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

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
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. Grünert SC Molecular genetics and metabolism 2017 PMID: 28689740
The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients. Fukao T Molecular genetics and metabolism 2001 PMID: 11161836
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. Fukao T Human mutation 1995 PMID: 7749408
Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency. Fukao T The Journal of clinical investigation 1992 PMID: 1346617
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. Schutgens RB European journal of pediatrics 1982 PMID: 7173255

Text-mined citations for rs120074141...

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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 May 13, 2021