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NM_000384.3(APOB):c.12529C>T (p.Arg4177Ter) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 8, 2019
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:
RCV002412255.2

Allele description [Variation Report for NM_000384.3(APOB):c.12529C>T (p.Arg4177Ter)]

NM_000384.3(APOB):c.12529C>T (p.Arg4177Ter)

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.12529C>T (p.Arg4177Ter)
HGVS:
  • NC_000002.12:g.21002893G>A
  • NG_011793.2:g.46180C>T
  • NM_000384.3:c.12529C>TMANE SELECT
  • NP_000375.3:p.Arg4177Ter
  • NC_000002.11:g.21225765G>A
  • NG_011793.1:g.46181C>T
  • NM_000384.2:c.12529C>T
Protein change:
R4177*
Molecular consequence:
  • NM_000384.3:c.12529C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002676806Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 8, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002676806.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.R4177* variant (also known as c.12529C>T), located in coding exon 29 of the APOB gene, results from a C to T substitution at nucleotide position 12529. This changes the amino acid from an arginine to a stop codon within coding exon 29. Premature stop codons are typically deleterious in nature, however, this stop codon occurs at the 3' terminus of APOB and is not expected to trigger nonsense-mediated mRNA decay. This alteration impacts the last 387 amino acids in the protein C-terminus, which has been indicated to play a role in both lipoprotein assembly and LDLR binding (McCormick SP et al. J. Biol. Chem., 1997 Sep;272:23616-22; Boren J et al. J. Clin. Invest., 1998 Mar;101:1084-93; Borén J et al. J. Biol. Chem., 2001 Mar;276:9214-8). Nevertheless, the exact functional impact of these altered amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024