NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) AND APOB-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 30, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004541593.2

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:: APOB-related disorder
Synonyms:: APOB-Related Disorders; APOB-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004758782	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely pathogenic (Jan 30, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004758782

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely pathogenic
(Jan 30, 2024)

germline

clinical testing

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004758782.2

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

Description

The APOB c.13028_13029delAT variant is predicted to result in a frameshift and premature protein termination (p.Tyr4343Cysfs*3). This variant has been reported in individuals with familial hypercholesterolemia (Al-Khateeb et al. 2013. PubMed ID: 23775634; Razman et al. 2022. PubMed ID: 36499307). This variant is reported in 0.015% of alleles in individuals of East Asian descent in gnomAD. In ClinVar, this variant has conflicting interpretations of uncertain significance and likely pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/440513/). Frameshift variants in APOB are expected to be pathogenic. This variant is interpreted as likely pathogenic.

#	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: Oct 26, 2024

ClinVar

Relating variation to medicine