Overview

Clinical Phenotype: Hyperlipoproteinemia Type IIb
Position: (GRCh38/hg38):Chr19:44908564 A>G
Position: (GRCh37/hg19):Chr19:45411821 A>G
Transcript: NM_000041; ENSG00000130203
dbSNP ID: rs1278944082
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: AAG to GAG
Reference Isoform: APOE Isoform 1
Genomic Region: Exon 4

Findings

This variant was identified in a 51-year-old German woman with mixed hyperlipidemia, also known as hyperlipoproteinemia type IIb, a genetic disorder characterized by high cholesterol and triglyceride levels in blood (Evans et al., 2013). Her triglyceride levels were above the 90th percentile compared with sex- and age-matched controls, and her apolipoprotein B/total cholesterol (ApoB/TC) ratio was 0.18. The latter indicates her condition was distinct from patients with another lipid disorder, type III hyperlipidemia, who typically have ratios below 0.15.

Biological Effect

The biological effect of this variant is unknown, but in silico algorithm Polyphen predicted it was damaging (Evans et al., 2013), and its PHRED-scaled CADD score, which integrates diverse information in silico, was above 20, also suggesting a deleterious effect (CADD v.1.6, Apr 2022).

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References

Paper Citations

1. Evans D, Beil FU, Aberle J. Resequencing the APOE gene reveals that rare mutations are not significant contributory factors in the development of type III hyperlipidemia. J Clin Lipidol. 2013 Nov-Dec;7(6):671-4. Epub 2013 May 25 PubMed.

Further Reading

No Available Further Reading