Overview

Clinical Phenotype: Hyperlipoproteinemia Type IV
Position: (GRCh38/hg38):Chr19:44908608 G>C
Position: (GRCh37/hg19):Chr19:45411865 G>C
Transcript: NM_000041; ENSG00000130203
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Silent
Codon Change: GCG to GCC
Reference Isoform: APOE Isoform 1
Genomic Region: Exon 4

Findings

This silent substitution was reported in a 41-year-old Spanish individual with hypertriglyceridemia (Bea et al., 2023). It was identified after sequencing of Exon 4 of the APOE gene. The carrier was homozygous for the APOE3 allele. The study included more than 4,000 Spanish individuals, including patients from a lipid clinic and volunteers from the Aragon Workers Health study.
This variant was absent from the gnomAD and the 1000 Genomes Project variant databases.

Biological Effect
The biological effect of this variant is unknown, but it was predicted to be neutral by the in silico algorithm PredictSNP2 (Bea et al., 2023). Moreover, its PHRED-scaled CADD score (1.10) was well below 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