Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr19:44908505 C>T
Position: (GRCh37/hg19):Chr19:45411762 C>T
Transcript: NM_000041; ENSG00000130203
dbSNP ID: rs372675300
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Reference Isoform: APOE Isoform 1
Genomic Region: Intron 3

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 and one MCI patient and was absent from controls.

In the gnomAD variant database, the variant was reported at a global frequency of 0.00022, with most carriers being of either East Asian (33 heterozygotes) or South Asian (18 heterozygotes) ancestry (gnomAD v2.1.1, Oct 2022).

Biological Effect

The biological effect of this intronic variant is unknown. Its PHRED-scaled CADD score, which integrates diverse information in silico, was 2.79, well below the commonly used threshold of 20 to predict deleteriousness (CADD v.1.6, Oct 2022).

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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