Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73640406 G>T
dbSNP ID: rs201617677
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: AGG to AGT
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 5

Findings

This variant was found using whole-exome sequencing to screen 15 patients from Chinese families with familial AD (Jiang et al., 2019). The proband was 60 years old at disease onset. His initial symptom was memory loss which progressed slowly, with irritability developing two years later. His mother died at approximately 90 years of age with cognitive impairment. Because of limited access to family data, this variant was described as of “uncertain significance.” It was found in three population-based, exome sequence databases: the 1000 Genomes Project (2E-04), ExAC (6.59E-05), and gnomAD (6.09E-05).

Neuropathology
Unknown

Biological Effect
In silico analyses predict the mutation is likely pathogenic. Polyphen 2 predicted it to be probably damaging and SIFT classified it as deleterious. The mutation’s CADD score was 31.

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References

Paper Citations

1. Jiang B, Zhou J, Li HL, Chen YG, Cheng HR, Ye LQ, Liu DS, Chen DF, Tao QQ, Wu ZY. Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing. Neurobiol Aging. 2019 Apr;76:215.e15-215.e21. Epub 2018 Dec 6 PubMed.

Further Reading

No Available Further Reading