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NM_000384.3(APOB):c.13444A>G (p.Ile4482Val) AND Cardiovascular phenotype

Germline classification:
Likely benign (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:
RCV002379223.9

Allele description [Variation Report for NM_000384.3(APOB):c.13444A>G (p.Ile4482Val)]

NM_000384.3(APOB):c.13444A>G (p.Ile4482Val)

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.13444A>G (p.Ile4482Val)
HGVS:
  • NC_000002.12:g.21001978T>C
  • NG_011793.1:g.47096A>G
  • NM_000384.3:c.13444A>GMANE SELECT
  • NP_000375.3:p.Ile4482Val
  • NC_000002.11:g.21224850T>C
  • NM_000384.2:c.13444A>G
Protein change:
I4482V
Links:
dbSNP: rs142702699
NCBI 1000 Genomes Browser:
rs142702699
Molecular consequence:
  • NM_000384.3:c.13444A>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
SCV002688779Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 19, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.

Huijgen R, Sjouke B, Vis K, de Randamie JS, Defesche JC, Kastelein JJ, Hovingh GK, Fouchier SW.

Hum Mutat. 2012 Feb;33(2):448-55. doi: 10.1002/humu.21660. Epub 2011 Dec 22.

PubMed [citation]
PMID:
22095935

Details of each submission

From Ambry Genetics, SCV002688779.2

#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