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NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: May 12, 2019)
Last evaluated:
May 5, 2019
Accession:
VCV000002832.3
Variation ID:
2832
Description:
single nucleotide variant
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NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr)

Allele ID
17871
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108146334 (GRCh38) GRCh38 UCSC
11: 108017061 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108146334G>A
NC_000011.9:g.108017061G>A
NM_000019.4:c.1138G>A MANE Select NP_000010.1:p.Ala380Thr missense
... more HGVS
Protein change
A347T, A380T
Other names
-
Canonical SPDI
NC_000011.10:108146333:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA252461
UniProtKB: P24752#VAR_007507
OMIM: 607809.0001
dbSNP: rs120074140
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter May 5, 2019 RCV000002966.3
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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: SCV000966119.1
Submitted: (May 12, 2019)
Evidence details
Publications
PubMed (1)
Pathogenic
(Aug 30, 1991)
no assertion criteria provided
Method: literature only
3-@KETOTHIOLASE DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000023124.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
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
Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. Fukao T Biochemical and biophysical research communications 1991 PMID: 1715688

Text-mined citations for rs120074140...

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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 17, 2020