NM_000019.4(ACAT1):c.239-8del AND Deficiency of acetyl-CoA acetyltransferase

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (3 submissions)
Last evaluated:: Jan 31, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002503169.3

Allele description

NM_000019.4(ACAT1):c.239-8del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000019.4(ACAT1):c.239-8del

HGVS:

NC_000011.10:g.108134213del
NG_009888.2:g.22509del
NM_000019.4:c.239-8delMANE SELECT
NM_001386677.1:c.239-8del
NM_001386678.1:c.120+2259del
NM_001386679.1:c.-39-8del
NM_001386681.1:c.-32-8del
NM_001386682.1:c.-32-8del
NM_001386685.1:c.-32-8del
NM_001386686.1:c.-32-8del
NM_001386687.1:c.-32-8del
NM_001386688.1:c.-32-8del
NM_001386689.1:c.-32-8del
NM_001386690.1:c.-32-8del
NM_001386691.1:c.-32-8del
LRG_1400t1:c.239-8del
LRG_1400:g.22509del
NC_000011.9:g.108004928del
NC_000011.9:g.108004940del
NM_000019.4:c.239-8delTMANE SELECT

Links:

dbSNP: rs201199156

NCBI 1000 Genomes Browser:

rs201199156

Molecular consequence:

NM_000019.4:c.239-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386677.1:c.239-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386678.1:c.120+2259del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386679.1:c.-39-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386681.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386682.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386685.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386686.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386687.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386688.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386689.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386690.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386691.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002805917	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 17, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004561183	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 31, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004812644	Molecular Genetics, Royal Melbourne Hospital See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jun 14, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002805917

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Aug 17, 2021)

unknown

clinical testing

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

SCV004561183

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 31, 2024)

germline

clinical testing

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

SCV004812644

Molecular Genetics, Royal Melbourne Hospital

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jun 14, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

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

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002805917.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

From Invitae, SCV004561183.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

From Molecular Genetics, Royal Melbourne Hospital, SCV004812644.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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