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NM_000040.3(APOC3):c.232A>G (p.Lys78Glu) AND Apolipoprotein c-III deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 1991
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000019492.24

Allele description [Variation Report for NM_000040.3(APOC3):c.232A>G (p.Lys78Glu)]

NM_000040.3(APOC3):c.232A>G (p.Lys78Glu)

Gene:
APOC3:apolipoprotein C3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_000040.3(APOC3):c.232A>G (p.Lys78Glu)
Other names:
K58E
HGVS:
  • NC_000011.10:g.116832816A>G
  • NG_008949.1:g.7909A>G
  • NM_000040.3:c.232A>GMANE SELECT
  • NP_000031.1:p.Lys78Glu
  • NC_000011.9:g.116703532A>G
  • P02656:p.Lys78Glu
Protein change:
K78E; LYS58GLU
Links:
UniProtKB: P02656#VAR_000643; OMIM: 107720.0002; dbSNP: rs121918382
NCBI 1000 Genomes Browser:
rs121918382
Molecular consequence:
  • NM_000040.3:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Apolipoprotein c-III deficiency
Synonyms:
Hyperalphalipoproteinemia 2
Identifiers:
MONDO: MONDO:0013534; MedGen: C3151467; OMIM: 614028

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039789OMIM
no assertion criteria provided
Pathogenic
(May 1, 1991) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia.

von Eckardstein A, Holz H, Sandkamp M, Weng W, Funke H, Assmann G.

J Clin Invest. 1991 May;87(5):1724-31.

PubMed [citation]
PMID:
2022742
PMCID:
PMC295277

Details of each submission

From OMIM, SCV000039789.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family with hyperalphalipoproteinemia and reduced levels of apoC-III (614028), von Eckardstein et al. (1991) identified a heterozygous carrier of an apolipoprotein C-III variant by the presence of additional bands after isoelectric focusing (IEF) of very low density lipoprotein (VLDL). Structural analysis of the variant protein revealed a lysine-to-glutamic acid change in position 58 (K58E). The underlying A-to-G exchange was verified by direct sequencing subsequent to amplification by polymerase chain reaction (PCR) of exon 4 of the APOC3 gene. Two variant carriers exhibited plasma concentrations of HDL cholesterol and APOA1 above the 95th percentile for sex-matched controls. Their plasma concentrations of apoC-III were 30 to 40% lower than those of 2 unaffected family members and random controls.

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

Last Updated: Apr 23, 2022