Overview

Clinical Phenotype: Blood Lipids/Lipoproteins
Position: (GRCh38/hg38):Chr19:44908618 C>T
Position: (GRCh37/hg19):Chr19:45411875 C>T
Transcript: NM_000041; ENSG00000130203
dbSNP ID: rs1050106163
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CGG to TGG
Reference Isoform: APOE Isoform 1
Genomic Region: Exon 4

Findings

This variant was identified in a 32-year-old Spanish participant in the Aragon Workers Health study (Bea et al., 2023). No abnormalities in their blood lipid profile were reported and they had an APOE3/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 reported as present in the gnomAD database at a frequency of <0.001 (Bea et al., 2023). However, Alzforum did not identify it in gnomAD (v2.1.1, July 2023).

Biological Effect
The biological effect of this variant is unknown, and predictions from four in silico algorithms were inconsistent (Bea et al., 2023). Its PHRED-scaled CADD score which integrates multiple types of in silico data was 23.6, 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