Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121554085 C>T
Position: (GRCh37/hg19):Chr11:121424794 C>T
dbSNP ID: rs532535284
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Nonsense
Codon Change: TCC to TCT
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 17

Findings

This synonymous variant was identified in a screen for somatic variants in subjects with Alzheimer’s disease (Nicolas et al., 2018). This variant was found in blood, with an allele fraction of 7.91 percent. The patient’s age of onset was 55 years and her APOE genotype is E3/E4.

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References

Paper Citations

1. Nicolas G, Acuña-Hidalgo R, Keogh MJ, Quenez O, Steehouwer M, Lelieveld S, Rousseau S, Richard AC, Oud MS, Marguet F, Laquerrière A, Morris CM, Attems J, Smith C, Ansorge O, Al Sarraj S, Frebourg T, Campion D, Hannequin D, Wallon D, Gilissen C, Chinnery PF, Veltman JA, Hoischen A. Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease. Alzheimers Dement. 2018 Dec;14(12):1632-1639. Epub 2018 Aug 13 PubMed.

Further Reading

No Available Further Reading