NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) AND Familial hypobetalipoproteinemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 12, 1988
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:: RCV000019472.26

Allele description [Variation Report for NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter)]

NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter)

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.3997C>T (p.Arg1333Ter)

Other names:

R1306*

HGVS:

NC_000002.12:g.21013379G>A
NG_011793.1:g.35695C>T
NM_000384.2:c.3997C>T
NM_000384.3:c.3997C>TMANE SELECT
NP_000375.3:p.Arg1333Ter
NC_000002.11:g.21236251G>A

Protein change:

R1333*; ARG1306TER

Links:

OMIM: 107730.0003; dbSNP: rs121918383

NCBI 1000 Genomes Browser:

rs121918383

Molecular consequence:

NM_000384.3:c.3997C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Familial hypobetalipoproteinemia (FHBL)
Synonyms:: Hypobetalipoproteinemia, familial, associated with apob39; Hypobetalipoproteinemia, familial, associated with apob40; Hypobetalipoproteinemia, familial, associated with apob90 or apob89; See all synonyms [MedGen]
Identifiers:: MedGen: C1862596

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039763	OMIM	no assertion criteria provided	Pathogenic (Sep 12, 1988)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000039763

OMIM

no assertion criteria provided

Pathogenic
(Sep 12, 1988)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia.

Collins DR, Knott TJ, Pease RJ, Powell LM, Wallis SC, Robertson S, Pullinger CR, Milne RW, Marcel YL, Humphries SE, et al.

Nucleic Acids Res. 1988 Sep 12;16(17):8361-75.

PubMed [citation]

PMID:: 2843815
PMCID:: PMC338564

Details of each submission

From OMIM, SCV000039763.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

A second truncated variant of apoB found in familial hypobetalipoproteinemia (615558) by Collins et al. (1988) had a change of arginine codon 1306, converting it to a stop codon and resulting in a protein of 1,305 residues which, however, could not be detected in the circulation. This mutation was a C-to-T transition in a CpG dinucleotide.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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