NM_000019.4(ACAT1):c.239-6dup AND Deficiency of acetyl-CoA acetyltransferase

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 26, 2023
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:: RCV001427228.9

Allele description [Variation Report for NM_000019.4(ACAT1):c.239-6dup]

NM_000019.4(ACAT1):c.239-6dup

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.239-6dup

HGVS:

NC_000011.10:g.108134215dup
NG_009888.2:g.22511dup
NM_000019.4:c.239-6dupMANE SELECT
NM_001386677.1:c.239-6dup
NM_001386678.1:c.120+2261dup
NM_001386679.1:c.-39-6dup
NM_001386681.1:c.-32-6dup
NM_001386682.1:c.-32-6dup
NM_001386685.1:c.-32-6dup
NM_001386686.1:c.-32-6dup
NM_001386687.1:c.-32-6dup
NM_001386688.1:c.-32-6dup
NM_001386689.1:c.-32-6dup
NM_001386690.1:c.-32-6dup
NM_001386691.1:c.-32-6dup
LRG_1400t1:c.239-6dup
LRG_1400:g.22511dup
NC_000011.9:g.108004940_108004941insA
NC_000011.9:g.108004942dup

Links:

dbSNP: rs2077417137

NCBI 1000 Genomes Browser:

rs2077417137

Molecular consequence:

NM_000019.4:c.239-6dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001386677.1:c.239-6dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001386678.1:c.120+2261dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001386679.1:c.-39-6dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001386681.1:c.-32-6dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001386682.1:c.-32-6dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001386685.1:c.-32-6dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001386686.1:c.-32-6dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001386687.1:c.-32-6dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001386688.1:c.-32-6dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001386689.1:c.-32-6dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001386690.1:c.-32-6dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001386691.1:c.-32-6dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Deficiency of acetyl-CoA acetyltransferase
Synonyms:: 3-KETOTHIOLASE DEFICIENCY; 3-OXOTHIOLASE DEFICIENCY; MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY
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
SCV001629902	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Sep 26, 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

SCV001629902

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Sep 26, 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	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

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001629902.6

#	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

Last Updated: May 16, 2025

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