Overview

Clinical Phenotype: Hyperlipoproteinemia Type IIb
Position: (GRCh38/hg38):Chr19:44908813 C>T
Position: (GRCh37/hg19):Chr19:45412070 C>T
Transcript: NM_000041; ENSG00000130203
dbSNP ID: rs1239911444
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CTG to TTG
Reference Isoform: APOE Isoform 1
Genomic Region: Exon 4

Findings

This synonymous variant was identified in a French patient in a cohort of nearly 6,000 unrelated individuals with primary dyslipidemia (Abou Khalil et al., 2022). The carrier had elevated triglycerides in blood and was diagnosed with familial combined hyperlipidemia, also known as hyperlipoproteinemia type IIb. The carrier had a family history of dyslipidemia and their APOE genotype was APOE3/E3.

The variant was absent from the gnomAD variant database (gnomAD v3.1.1, Nov 2021).

Biological Effect

The biological effect of this variant is unknown. While the computational algorithm Provean predicted a neutral effect, Mutation Taster predicted the variant is disease-causing. Its PHRED-scaled CADD score, which integrates diverse information in silico, was 7.641, well below the commonly used threshold (20) to predict deleteriousness (Abou Khalil et al., 2022).

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References

Paper Citations

1. Abou Khalil Y, Marmontel O, Ferrières J, Paillard F, Yelnik C, Carreau V, Charrière S, Bruckert E, Gallo A, Giral P, Philippi A, Bluteau O, Boileau C, Abifadel M, Di-Filippo M, Carrié A, Rabès JP, Varret M. APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia. Int J Mol Sci. 2022 May 21;23(10) PubMed.

Further Reading

No Available Further Reading