NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 21, 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:: RCV002383985.5

Allele description [Variation Report for NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)]

NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)

Gene:

APOB:apolipoprotein B [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2p24.1

Genomic location:

Preferred name:

NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)

HGVS:

NC_000002.11:g.21225267_21225268del
NC_000002.12:g.21002393AT[1]
NG_011793.1:g.46678AT[1]
NM_000384.3:c.13028_13029delMANE SELECT
NP_000375.3:p.Tyr4343fs
NC_000002.11:g.21225265AT[1]
NC_000002.11:g.21225265_21225266del
NC_000002.11:g.21225267_21225268del
NM_000384.2:c.13028_13029delAT
NM_000384.3:c.13028_13029delATMANE SELECT

Protein change:

Y4343fs

Links:

dbSNP: rs760832994

NCBI 1000 Genomes Browser:

rs760832994

Molecular consequence:

NM_000384.3:c.13028_13029del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002692494	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 21, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23775634, 36499307 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002692494

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 21, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Molecular description of familial defective APOB-100 in Malaysia.

Al-Khateeb AR, Mohd MS, Yusof Z, Zilfalil BA.

Biochem Genet. 2013 Oct;51(9-10):811-23. doi: 10.1007/s10528-013-9609-6. Epub 2013 Jun 18.

PubMed [citation]

PMID:: 23775634

Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.

Razman AZ, Chua YA, Mohd Kasim NA, Al-Khateeb A, Sheikh Abdul Kadir SH, Jusoh SA, Nawawi H; MyHEBAT-FH Study Investigators..

Int J Mol Sci. 2022 Nov 29;23(23). doi:pii: 14971. 10.3390/ijms232314971.

PubMed [citation]

PMID:: 36499307
PMCID:: PMC9736953

Details of each submission

From Ambry Genetics, SCV002692494.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Not expected to trigger nonsense-mediated mRNA decay Based on insufficient or conflicting evidence, 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: Jun 29, 2024

ClinVar

Relating variation to medicine