Overview

Clinical Phenotype: Blood Lipids/Lipoproteins, Pancreatitis
Position: (GRCh38/hg38):Chr19:44908625 G>C
Position: (GRCh37/hg19):Chr19:45411882 G>C
Transcript: NM_000041; ENSG00000130203
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CGG to CCG
Reference Isoform: APOE Isoform 1
Genomic Region: Exon 4

Findings

This variant was identified in a 50-year-old Turkish woman with pancreatitis and severe hypertriglyceridemia (Abedi et al., 2023). Six genes involved in lipid metabolism—LPL, APOC2, APOE, APOA5, LMF1, and GPHIBP1—were sequenced and APOE R110P emerged as a rare variant with a minor allele frequency below one percent. It was absent from the gnomAD variant database (v2.1.1, March 2023).

Biological Effect
The biological effect of this variant is unknown, but its PHRED-scaled CADD score, which integrates diverse information in silico, was above 20 (24.6), suggesting a deleterious effect (CADD v.1.6, March 2023).

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References

Paper Citations

1. Abedi AH, Yıldırım Şimşir I, Bayram F, Onay H, Özgür S, Mcintyre A, Toth P, Hegele R. Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE. Turk Kardiyol Dern Ars. 2023 Jan;51(1):10-21. PubMed.

Further Reading

No Available Further Reading