NM_000384.3(APOB):c.5560G>A (p.Asp1854Asn) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 19, 2022
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:: RCV002343407.4

Allele description [Variation Report for NM_000384.3(APOB):c.5560G>A (p.Asp1854Asn)]

NM_000384.3(APOB):c.5560G>A (p.Asp1854Asn)

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.5560G>A (p.Asp1854Asn)

HGVS:

NC_000002.12:g.21011308C>T
NG_011793.1:g.37766G>A
NM_000384.3:c.5560G>AMANE SELECT
NP_000375.3:p.Asp1854Asn
NC_000002.11:g.21234180C>T
NM_000384.2:c.5560G>A

Protein change:

D1854N

Links:

dbSNP: rs138005301

NCBI 1000 Genomes Browser:

rs138005301

Molecular consequence:

NM_000384.3:c.5560G>A - 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
SCV002649996	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 19, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 21033204, 30842500, 33303402 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002649996

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 19, 2022)

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

Diamonds in the rough: rare variants scratch the surface.

Podolak E.

Biotechniques. 2010 Oct;49(4):697, 699, 701. No abstract available.

PubMed [citation]

PMID:: 21033204

Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease.

Pelusi S, Baselli G, Pietrelli A, Dongiovanni P, Donati B, McCain MV, Meroni M, Fracanzani AL, Romagnoli R, Petta S, Grieco A, Miele L, Soardo G, Bugianesi E, Fargion S, Aghemo A, D'Ambrosio R, Xing C, Romeo S, De Francesco R, Reeves HL, Valenti LVC.

Sci Rep. 2019 Mar 6;9(1):3682. doi: 10.1038/s41598-019-39998-2.

PubMed [citation]

PMID:: 30842500
PMCID:: PMC6403344

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002649996.2

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

Description

The p.D1854N variant (also known as c.5560G>A), located in coding exon 26 of the APOB gene, results from a G to A substitution at nucleotide position 5560. The aspartic acid at codon 1854 is replaced by asparagine, an amino acid with highly similar properties. This variant has been detected in a hypercholesterolemia cohort (Gill PK et al. J Clin Lipidol Nov;15:79-87). This amino acid position is not well conserved in available 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: Oct 13, 2024

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