Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 12, 2019)
Last evaluated:
May 5, 2019
Accession:
VCV000666493.1
Variation ID:
666493
Description:
2bp indel
Help

NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn)

Allele ID
654047
Variant type
Indel
Variant length
2 bp
Cytogenetic location
11q22.3
Genomic location
11: 108140128-108140129 (GRCh38) GRCh38 UCSC
11: 108010855-108010856 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108140128_108140129delinsAA
NC_000011.9:g.108010855_108010856delinsAA
NM_000019.4:c.643_644delinsAA MANE Select NP_000010.1:p.Ala215Asn missense
... more HGVS
Protein change
A215N
Other names
-
Canonical SPDI
NC_000011.10:108140127:GC:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1591368794
VarSome
Help

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 RCV000844799.1
Help
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

Help
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: SCV000966072.1
Submitted: (May 12, 2019)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
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 and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency. Abdelkreem E JIMD reports 2017 PMID: 27928777

Text-mined citations for rs1591368794...

Help
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 Aug 06, 2020