Overview

Clinical Phenotype: Blood Lipids/Lipoproteins
Position: (GRCh38/hg38):Chr19:44908702 T>C
Position: (GRCh37/hg19):Chr19:45411959 T>C
Transcript: NM_000041; ENSG00000130203
dbSNP ID: NA
Coding/Non-Coding: Coding
Codon Change: TAC to CAC
Reference Isoform: APOE Isoform 1
Genomic Region: Exon 4

Findings

This variant was identified in a 42-year-old Spanish participant in the Aragon Workers Health study with no identified abnormalities in their blood lipid profile (Bea et al., 2023). They had an APOE2/E3 genotype. The variant was identified after sequencing of Exon 4 of the APOE gene. The study included more than 4,000 Spanish individuals, including patients from a lipid clinic and control volunteers from the Aragon Workers Health study.

This variant was absent from the 1000 Genomes Project variant database and the gnomAD variant database.

Biological Effect
The biological effect of this variant is unknown, but at least three of four in silico algorithms predicted it is deleterious (Bea et al., 2023). Moreover, its PHRED-scaled CADD score which integrates multiple types of in silico data was 24.8, above the commonly used threshold of 20 to assess deleteriousness (v1.6, July 2023).

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References

Paper Citations

1. Bea AM, Larrea-Sebal A, Marco-Benedi V, Uribe KB, Galicia-Garcia U, Lamiquiz-Moneo I, Laclaustra M, Moreno-Franco B, Fernandez-Corredoira P, Olmos S, Civeira F, Martin C, Cenarro A. Contribution of APOE Genetic Variants to Dyslipidemia. Arterioscler Thromb Vasc Biol. 2023 Jun;43(6):1066-1077. Epub 2023 Apr 13 PubMed.

Further Reading

No Available Further Reading