Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121558714 C>T
Position: (GRCh37/hg19):Chr11:121429423 C>T
dbSNP ID: rs188932219
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Nonsense
Codon Change: GAC to GAT
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 20

Findings

In a Dutch sample of 640 Alzheimer’s cases and 1268 controls, an 87-year-old control subject was a heterozygous carrier of this variant. 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