Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121577321 C>G
Position: (GRCh37/hg19):Chr11:121448030 C>G
dbSNP ID: rs151312897
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Nonsense
Codon Change: TCC to TCG
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 25

Findings

Three control subjects were found to be heterozygous carriers of this synonymous variant in a Dutch sample of 1268 controls and 640 Alzheimer’s cases. The variant was not seen in a pan-European cohort of 1255 cases and 1938 controls from the European Early Onset Dementia Consortium (Holstege et al., 2017).

The variant is classified as likely benign by the criteria of Holstege et al. (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