NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 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:: RCV002377194.9

Allele description [Variation Report for NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser)]

NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser)

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.8882A>G (p.Asn2961Ser)

HGVS:

NC_000002.12:g.21007986T>C
NG_011793.1:g.41088A>G
NM_000384.3:c.8882A>GMANE SELECT
NP_000375.3:p.Asn2961Ser
NC_000002.11:g.21230858T>C
NM_000384.2:c.8882A>G

Protein change:

N2961S

Links:

dbSNP: rs142756262

NCBI 1000 Genomes Browser:

rs142756262

Molecular consequence:

NM_000384.3:c.8882A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002685509	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Jun 21, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 22923420, 31153816, 35913489 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002685509

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Jun 21, 2023)

germline

clinical testing

PubMed (3)
[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

Pooled DNA resequencing of 68 myocardial infarction candidate genes in French canadians.

Beaudoin M, Lo KS, N'Diaye A, Rivas MA, Dubé MP, Laplante N, Phillips MS, Rioux JD, Tardif JC, Lettre G.

Circ Cardiovasc Genet. 2012 Oct 1;5(5):547-54. doi: 10.1161/CIRCGENETICS.112.963165. Epub 2012 Aug 25.

PubMed [citation]

PMID:: 22923420

The island of Gran Canaria: A genetic isolate for familial hypercholesterolemia.

Sánchez-Hernández RM, Tugores A, Nóvoa FJ, Brito-Casillas Y, Expósito-Montesdeoca AB, Garay P, Bea AM, Riaño M, Pocovi M, Civeira F, Wägner AM, Boronat M.

J Clin Lipidol. 2019 Jul - Aug;13(4):618-626. doi: 10.1016/j.jacl.2019.04.099. Epub 2019 May 8.

PubMed [citation]

PMID:: 31153816

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002685509.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.N2961S variant (also known as c.8882A>G), located in coding exon 26 of the APOB gene, results from an A to G substitution at nucleotide position 8882. The asparagine at codon 2961 is replaced by serine, an amino acid with highly similar properties. This alteration has been noted in hypercholesterolemia cohorts and has been reported in combination with other cardiac-related genes (Beaudoin M et al. Circ Cardiovasc Genet, 2012 Oct;5:547-54; Sánchez-Hernández RM et al. J Clin Lipidol, 2019 May;13:618-626; Sustar U et al. Genet Med, 2022 Oct;24:2103-2111). This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, 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: Apr 20, 2024

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