Overview

Pathogenicity: Mild Cognitive Impairment : Not Classified
Clinical Phenotype: Mild Cognitive Impairment
Position: (GRCh38/hg38):Chr1:226894105 T>C
Position: (GRCh37/hg19):Chr1:227081806 T>C
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: TGC to CGC
Reference Isoform: PSEN2 Isoform 1 (448 aa)
Genomic Region: Exon 12

Findings

This variant was reported in a 74-year-old individual with mild cognitive impairment from the Cretan Aging Cohort (Mathioudakis et al., 2022). It was absent from the gnomAD variant database.

Neuropathology
Neuropathological data are unavailable.

Biological Effect
This variant's PHRED-scaled CADD score which integrates diverse information in silico, was above 20 (28.6), suggesting a deleterious effect (Mathioudakis et al., 2022).

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References

Paper Citations

1. Mathioudakis L, Dimovasili C, Bourbouli M, Latsoudis H, Kokosali E, Gouna G, Vogiatzi E, Basta M, Kapetanaki S, Panagiotakis S, Kanterakis A, Boumpas D, Lionis C, Plaitakis A, Simos P, Vgontzas A, Kafetzopoulos D, Zaganas I. Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort. Neurobiol Aging. 2023 Mar;123:111-128. Epub 2022 Jul 11 PubMed.

Further Reading

No Available Further Reading