Mutations

PSEN1 N39Y

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73637532 A>T
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: AAC to TAC
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 4

Findings

This mutation was identified in a genetic screen of 757 patients in the U.K. with early onset Alzheimer’s disease (Koriath et al., 2018). It was reported as also present in the gnomAD variant database with an allele count of one and a frequency of 0.000004 (however, it was missing from gnomAD v2.1.1; August, 2019).  Koriath et al. described the variant as most likely fully penetrant (95% CI > 100% penetrance), and classified it as possibly deleterious following the ACMG-AMP guidelines (Richards et al., 2015).

Last Updated: 22 Aug 2019

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References

Paper Citations

  1. . Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. Mol Psychiatry. 2018 Oct 2; PubMed.
  2. . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. Epub 2015 Mar 5 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. Mol Psychiatry. 2018 Oct 2; PubMed.

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