Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr19:44906775_44906776 ->TTG
Position: (GRCh37/hg19):Chr19:45410132_45410133 ->TTG
Transcript: NM_000041; ENSG00000130203
dbSNP ID: rs374670655
Coding/Non-Coding: Non-Coding
DNA Change: Duplication
Expected RNA Consequence: Duplication
Reference Isoform: APOE Isoform 1
Genomic Region: Intron 2

Findings

This variant was reported in a study in which the APOE genes of 257 Southern Chinese individuals, including 69 AD patients, 83 subjects with mild cognitive impairment (MCI), and 105 cognitively healthy controls, were sequenced (Yee et al., 2021). The variant was found in one AD patient (0.7%) and one control (0.5%).

In the gnomAD variant database, the variant was reported at a global frequency of 0.00019, with a higher frequency (0.003) in East Asians (gnomAD v2.1.1, Oct 2022). All but one of five heterozygous carriers in the database were of East Asian ancestry.

Biological Effect

This intronic variant is an insertion resulting in a triple nucleotide duplication. Its biological effect is unknown.

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References

Paper Citations

1. Yee A, Tsui NB, Kwan RY, Leung AY, Lai CK, Chung T, Lau JY, Fok M, Dai DL, Lau LT. Apolipoprotein E Gene Revisited: Contribution of Rare Variants to Alzheimer's Disease Susceptibility in Southern Chinese. Curr Alzheimer Res. 2021 Mar 24; PubMed.

Further Reading

No Available Further Reading