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NM_000384.3(APOB):c.7283A>G (p.Lys2428Arg) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 2, 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:
RCV004024626.1

Allele description [Variation Report for NM_000384.3(APOB):c.7283A>G (p.Lys2428Arg)]

NM_000384.3(APOB):c.7283A>G (p.Lys2428Arg)

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.7283A>G (p.Lys2428Arg)
HGVS:
  • NC_000002.12:g.21009585T>C
  • NG_011793.1:g.39489A>G
  • NM_000384.3:c.7283A>GMANE SELECT
  • NP_000375.3:p.Lys2428Arg
  • NC_000002.11:g.21232457T>C
  • NM_000384.2:c.7283A>G
Protein change:
K2428R
Links:
dbSNP: rs1369533953
NCBI 1000 Genomes Browser:
rs1369533953
Molecular consequence:
  • NM_000384.3:c.7283A>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
SCV004084197Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 2, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004084197.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

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