Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121554007 C>T
Position: (GRCh37/hg19):Chr11:121424716 C>T
dbSNP ID: rs538244145
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Silent
Codon Change: ACC to ACT
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 17

Findings

In a Dutch sample of 1268 controls and 640 Alzheimer’s cases, one 92-year-old control subject was found to be a heterozygous carrier of this synonymous variant. No additional carriers were found in a pan-European cohort of 1255 AD cases and 1938 controls from the European Early-Onset Dementia Consortium (Holstege et al., 2017).

The variant was classified as “uncertain: possibly pathogenic” by the criteria of Holstege et al., 2017 (Holstege et al., 2017).

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References

Paper Citations

1. Holstege H, van der Lee SJ, Hulsman M, Wong TH, van Rooij JG, Weiss M, Louwersheimer E, Wolters FJ, Amin N, Uitterlinden AG, Hofman A, Ikram MA, van Swieten JC, Meijers-Heijboer H, van der Flier WM, Reinders MJ, van Duijn CM, Scheltens P. Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy. Eur J Hum Genet. 2017 Aug;25(8):973-981. Epub 2017 May 24 PubMed.

Further Reading

No Available Further Reading