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NM_000019.4(ACAT1):c.826+5_826+9del

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 12, 2019)
Last evaluated:
May 5, 2019
Accession:
VCV000666505.1
Variation ID:
666505
Description:
5bp deletion
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NM_000019.4(ACAT1):c.826+5_826+9del

Allele ID
654088
Variant type
Deletion
Variant length
5 bp
Cytogenetic location
11q22.3
Genomic location
11: 108141705-108141709 (GRCh38) GRCh38 UCSC
11: 108012432-108012436 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108141705_108141709del
NC_000011.9:g.108012432_108012436del
NM_000019.4:c.826+5_826+9del MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:108141704:GTGTT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs1410743762
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 5, 2019 RCV000844812.1
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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: SCV000966088.1
Submitted: (May 12, 2019)
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

Text-mined citations for rs1410743762...

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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 Jun 27, 2020