NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 18, 2018
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:: RCV000627576.1

Allele description [Variation Report for NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs)]

NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs)

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.1033_1034del (p.Glu345fs)

HGVS:

NC_000011.10:g.108146229_108146230del
NG_009888.2:g.34525_34526del
NM_000019.4:c.1033_1034delMANE SELECT
NP_000010.1:p.Glu345fs
LRG_1400t1:c.1033_1034del
LRG_1400:g.34525_34526del
LRG_1400p1:p.Glu345fs
NC_000011.9:g.108016955_108016956del
NC_000011.9:g.108016956_108016957del
NG_009888.1:g.29699_29700del
NM_000019.3:c.1033_1034del
NM_000019.3:c.1033_1034delGA

Protein change:

E345fs

Links:

dbSNP: rs781496140

NCBI 1000 Genomes Browser:

rs781496140

Molecular consequence:

NM_000019.4:c.1033_1034del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000748576	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Apr 18, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000748576

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Apr 18, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000748576.3

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

Description

The c.1033_1034delGA variant in the ACAT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1033_1034delGA variant causes a frameshift starting with codon Glutamic acid 345, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Glu345ArgfsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1033_1034delGA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.1033_1034delGA as a pathogenic variant.

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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