NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) AND Deficiency of acetyl-CoA acetyltransferase

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 5, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000002976.13

Allele description [Variation Report for NM_000019.4(ACAT1):c.1083dup (p.Ala362fs)]

NM_000019.4(ACAT1):c.1083dup (p.Ala362fs)

Gene:

ACAT1:acetyl-CoA acetyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000019.4(ACAT1):c.1083dup (p.Ala362fs)

HGVS:

NC_000011.10:g.108146279dup
NG_009888.2:g.34575dup
NM_000019.4:c.1083dupMANE SELECT
NP_000010.1:p.Ala362fs
LRG_1400t1:c.1083dup
LRG_1400:g.34575dup
LRG_1400p1:p.Ala362fs
NC_000011.9:g.108017006dup
NG_009888.1:g.29749dup
NM_000019.3:c.1083dup
NP_000010.1:p.Ala362fs

Protein change:

A362fs

Links:

OMIM: 607809.0011; dbSNP: rs387906283

NCBI 1000 Genomes Browser:

rs387906283

Molecular consequence:

NM_000019.4:c.1083dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Deficiency of acetyl-CoA acetyltransferase
Synonyms:: Alpha-methylacetoaceticaciduria; 2-methyl-3-hydroxybutyricacidemia; Mitochondrial acetoacetyl-CoA Thiolase deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008760; MedGen: C1536500; Orphanet: 134; OMIM: 203750

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023134	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000966116	Department of Pediatrics, Gifu University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 5, 2019)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 31268215

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023134

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 1998)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000966116

Department of Pediatrics, Gifu University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 5, 2019)

germline

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	1	not provided	not provided	yes	research
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy.

Sewell AC, Herwig J, Wiegratz I, Lehnert W, Niederhoff H, Song XQ, Kondo N, Fukao T.

J Inherit Metab Dis. 1998 Jun;21(4):441-2. No abstract available.

PubMed [citation]

PMID:: 9700610

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000023134.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the 1-bp insertion in the ACAT1 gene (1083insA) that was found in compound heterozygous state in a patient with 3-ketothiolase deficiency (203750) by Sewell et al. (1998), see 607809.0010.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Department of Pediatrics, Gifu University, SCV000966116.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	yes	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Nov 3, 2024

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