NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 11, 2024
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:: RCV004702467.1

Allele description [Variation Report for NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)]

NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)

Gene:

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

Variant type:

Indel

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)

HGVS:

NC_000011.10:g.108133862_108133866delinsAA
NG_009888.2:g.22158_22162delinsAA
NM_000019.4:c.163_167delinsAAMANE SELECT
NP_000010.1:p.Phe55_Leu56delinsLys
LRG_1400t1:c.163_167delinsAA
LRG_1400:g.22158_22162delinsAA
LRG_1400p1:p.Phe55_Leu56delinsLys
NC_000011.9:g.108004589_108004593delinsAA
NC_000011.9:g.108004589_108004593delinsAA
NG_009888.1:g.17332_17336delinsAA
NM_000019.3:c.163_167delinsAA

Links:

dbSNP: rs1591361995

NCBI 1000 Genomes Browser:

rs1591361995

Molecular consequence:

NM_000019.4:c.163_167delinsAA - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005202647	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jul 11, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005202647

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jul 11, 2024)

germline

clinical testing

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

Citation Link

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

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Fukao T, Nguyen HT, Nguyen NT, Vu DC, Can NT, Pham AT, Nguyen KN, Kobayashi H, Hasegawa Y, Bui TP, Niezen-Koning KE, Wanders RJ, de Koning T, Nguyen LT, Yamaguchi S, Kondo N.

Mol Genet Metab. 2010 May;100(1):37-41. doi: 10.1016/j.ymgme.2010.01.007. Epub 2010 Jan 21.

PubMed [citation]

PMID:: 20156697

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005202647.1

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

Description

Variant summary: ACAT1 c.163_167delinsAA (p.Phe55_Leu56delinsLys) results in an in-frame deletion-insertion that is predicted to delete two amino acids from the protein and insert one amino acid. The variant was absent in 282874 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.163_167delinsAA has been reported in the literature in individuals affected with Alpha-Methylacetoacetic Aciduria (Fukao_2010). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 20156697). ClinVar contains an entry for this variant (Variation ID: 666468). Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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: Jan 19, 2025

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