NM_000384.3(APOB):c.13576C>T (p.Gln4526Ter) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 23, 2021
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:: RCV002383377.2

Allele description [Variation Report for NM_000384.3(APOB):c.13576C>T (p.Gln4526Ter)]

NM_000384.3(APOB):c.13576C>T (p.Gln4526Ter)

Gene:

APOB:apolipoprotein B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p24.1

Genomic location:

Preferred name:

NM_000384.3(APOB):c.13576C>T (p.Gln4526Ter)

HGVS:

NC_000002.12:g.21001846G>A
NG_011793.2:g.47227C>T
NG_042877.1:g.1546G>A
NM_000384.3:c.13576C>TMANE SELECT
NP_000375.3:p.Gln4526Ter
NC_000002.11:g.21224718G>A
NG_011793.1:g.47228C>T
NM_000384.2:c.13576C>T

Protein change:

Q4526*

Molecular consequence:

NM_000384.3:c.13576C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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cytochrome oxidase subunit I, partial (mitochondrion) [Terrapene sp.]
cytochrome oxidase subunit I, partial (mitochondrion) [Terrapene sp.]
gi|1480134499|gb|AYA78828.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002690247	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 23, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002690247

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 23, 2021)

germline

clinical testing

Citation Link

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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

Details of each submission

From Ambry Genetics, SCV002690247.2

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

Description

The p.Q4526* variant (also known as c.13576C>T), located in coding exon 29 of the APOB gene, results from a C to T substitution at nucleotide position 13576. This changes the amino acid from a glutamine to a stop codon within coding exon 29. This alteration occurs at the 3' terminus of theAPOB gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 38 amino acids of the protein. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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 1, 2024

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