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NM_000384.3(APOB):c.9694A>G (p.Lys3232Glu) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 27, 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:
RCV002369788.9

Allele description [Variation Report for NM_000384.3(APOB):c.9694A>G (p.Lys3232Glu)]

NM_000384.3(APOB):c.9694A>G (p.Lys3232Glu)

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.9694A>G (p.Lys3232Glu)
HGVS:
  • NC_000002.12:g.21007174T>C
  • NG_011793.1:g.41900A>G
  • NM_000384.3:c.9694A>GMANE SELECT
  • NP_000375.3:p.Lys3232Glu
  • NC_000002.11:g.21230046T>C
  • NM_000384.2:c.9694A>G
Protein change:
K3232E
Links:
dbSNP: rs544521341
NCBI 1000 Genomes Browser:
rs544521341
Molecular consequence:
  • NM_000384.3:c.9694A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002690556Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 27, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.

Matsunaga A, Nagashima M, Yamagishi H, Saku K.

J Atheroscler Thromb. 2020 Dec 1;27(12):1264-1277. doi: 10.5551/jat.51540. Epub 2020 Feb 29.

PubMed [citation]
PMID:
32115487
PMCID:
PMC7840158

Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease.

Koyama S, Ito K, Terao C, Akiyama M, Horikoshi M, Momozawa Y, Matsunaga H, Ieki H, Ozaki K, Onouchi Y, Takahashi A, Nomura S, Morita H, Akazawa H, Kim C, Seo JS, Higasa K, Iwasaki M, Yamaji T, Sawada N, Tsugane S, Koyama T, et al.

Nat Genet. 2020 Nov;52(11):1169-1177. doi: 10.1038/s41588-020-0705-3. Epub 2020 Oct 5.

PubMed [citation]
PMID:
33020668

Details of each submission

From Ambry Genetics, SCV002690556.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

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 10, 2024