Overview

Clinical Phenotype: Hyperlipoproteinemia Type IIa
Position: (GRCh38/hg38):Chr19:44909100 A>G
Position: (GRCh37/hg19):Chr19:45412357 A>G
Transcript: NM_000041; ENSG00000130203
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: ATA to ATG
Reference Isoform: APOE Isoform 1
Genomic Region: Exon 4

Findings

This variant was identified in a Chilean child who suffered from presumed familial hypercholesterolemia, also known as hyperlipoproteinemia type IIa (Sánchez et al., 2021). The patient also carried a duplication of exons 13 to 15 in the low-density lipoprotein receptor (LDLR) gene.

The variant was absent from the gnomAD variant database (v2.1.1, Apr 2022).

Biological Effect

The biological effect of this variant is unknown, but the authors hypothesize it might alter ApoE’s interactions with lipids since it is in the C-terminal domain, specifically in the lipid-binding region (Sánchez et al., 2021). However, the variant’s PHRED-scaled CADD score, which integrates diverse information in silico, did not reach 20, a commonly used threshold to predict deleteriousness (CADD v.1.6, Apr 2022).

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References

Paper Citations

1. Sánchez A, Bustos P, Honorato P, Sáez K, Elim-Jannes C, Barriga N, Ibieta G, Pérez L, Alonso R, Radojkovic C, Asenjo S. [Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents]. Rev Med Chil. 2021 Sep;149(9):1267-1274. PubMed.

Further Reading

No Available Further Reading