Overview

Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37/hg19
Position: Chr11:121454252 G>C
dbSNP ID: rs141401572
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Nonsense
Codon Change: ACG to ACC
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 26

Findings

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

The T1222T 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