U.S. flag

An official website of the United States government

NM_000384.3(APOB):c.7331G>A (p.Arg2444His) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 6, 2020
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:
RCV002386357.9

Allele description [Variation Report for NM_000384.3(APOB):c.7331G>A (p.Arg2444His)]

NM_000384.3(APOB):c.7331G>A (p.Arg2444His)

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.7331G>A (p.Arg2444His)
HGVS:
  • NC_000002.12:g.21009537C>T
  • NG_011793.1:g.39537G>A
  • NM_000384.3:c.7331G>AMANE SELECT
  • NP_000375.3:p.Arg2444His
  • NC_000002.11:g.21232409C>T
  • NM_000384.2:c.7331G>A
Protein change:
R2444H
Links:
dbSNP: rs200143030
NCBI 1000 Genomes Browser:
rs200143030
Molecular consequence:
  • NM_000384.3:c.7331G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On
  • BJ616505 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
    BJ616505 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL177c18 5', mRNA sequence
    gi|37252194|gnl|dbEST|19921516|dbj| 505.1|
    Nucleotide
  • Biology
    Biology
    One of the BIOLOGICAL SCIENCE DISCIPLINES concerned with the origin, structure, development, growth, function, genetics, and reproduction of animals, plants, and microorganism...<br/>
    MeSH
  • Cell Biology
    Cell Biology
    The study of the structure, behavior, growth, reproduction, and pathology of cells; and the function and chemistry of cellular components.<br/>Year introduced: 2010 (1984)
    MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002671075Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 6, 2020) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.

Cao YX, Wu NQ, Sun D, Liu HH, Jin JL, Li S, Guo YL, Zhu CG, Gao Y, Dong QT, Liu G, Dong Q, Li JJ.

J Transl Med. 2018 Dec 10;16(1):345. doi: 10.1186/s12967-018-1737-7.

PubMed [citation]
PMID:
30526649
PMCID:
PMC6288904

Details of each submission

From Ambry Genetics, SCV002671075.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024