Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121625231 G>A
Position: (GRCh37/hg19):Chr11:121495940 G>A
dbSNP ID: rs149393026
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Nonsense
Codon Change: CAG to CAA
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 46

Findings

In a Dutch sample of 640 Alzheimer’s cases and 1268 controls, five control subjects were found to be heterozygous carriers of this variant. No additional carriers were found among a pan-European cohort of 1255 AD cases and 1938 controls from the European Early Onset Dementia Consortium (Holstege et al., 2017).

Another heterozygous carrier was found in a sample of 117 Saudi Arabian Alzheimer’s cases (El Bitar et al., 2019).

The Q2106Q variant is classified as likely benign by the criteria of Holstege et al. (Holstege et al., 2017).

Functional Consequences

This variant was predicted to be tolerated by SIFT, neutral by PROVEAN, and disease-causing by Mutation Taster (El Bitar et al., 2019).

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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.
2. El Bitar F, Qadi N, Al Rajeh S, Majrashi A, Abdulaziz S, Majrashi N, Al Inizi M, Taher A, Al Tassan N. Genetic Study of Alzheimer's Disease in Saudi Population. J Alzheimers Dis. 2019;67(1):231-242. PubMed.

Further Reading

No Available Further Reading