NM_000384.2(APOB):c.4352delG (p.Gly1451Valfs) AND Familial hypobetalipoproteinemia

Clinical significance:Pathogenic (Last evaluated: Mar 1, 1990)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000019478.26

Allele description [Variation Report for NM_000384.2(APOB):c.4352delG (p.Gly1451Valfs)]

NM_000384.2(APOB):c.4352delG (p.Gly1451Valfs)

Gene:
APOB:apolipoprotein B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p24.1
Genomic location:
Preferred name:
NM_000384.2(APOB):c.4352delG (p.Gly1451Valfs)
Other names:
APOB31
HGVS:
  • NC_000002.12:g.21012516delC
  • NG_011793.1:g.36558delG
  • NM_000384.2:c.4352delG
  • NP_000375.2:p.Gly1451Valfs
  • NC_000002.11:g.21235388delC
Links:
OMIM: 107730.0008; dbSNP: 397514256
NCBI 1000 Genomes Browser:
rs397514256
Molecular consequence:
  • NM_000384.2:c.4352delG - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039773OMIMno assertion criteria providedPathogenic
(Mar 1, 1990)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46).

Young SG, Hubl ST, Chappell DA, Smith RS, Claiborne F, Snyder SM, Terdiman JF.

N Engl J Med. 1989 Jun 15;320(24):1604-10. No abstract available.

PubMed [citation]
PMID:
2725600

Details of each submission

From OMIM, SCV000039773.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Young et al. (1990) identified a mutation of the APOB gene that resulted in formation of a truncated apoB species, apoB31, as a cause of familial hypobetalipoproteinemia. The mutation consisted of deletion of a single guanine residue which caused a frameshift and a premature termination with formation of a protein predicted to contain 1,425 amino acids. This is the shortest of the mutant apoB species identified in the plasma of subjects with hypobetalipoproteinemia. In contrast to the longer truncated proteins, apoB31 was undetectable in VLDL and LDL but was present in the HDL fraction and in the lipoprotein-deficient fraction of the plasma. This mutation was found in the course of studying the apoB46 mutant (Young et al., 1989).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2017