Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121621110 G>A
Position: (GRCh37/hg19):Chr11:121491819 G>A
dbSNP ID: rs139309981
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Missense
Codon Change: AGC to AAC
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 44

Findings

In a European-American cohort of 134 sporadic late-onset Alzheimer’s cases and 266 controls recruited by the Washington University Knight Alzheimer's Disease Research Center and the National Institute on Aging Genetics Initiative for Late-Onset Alzheimer’s Disease, the variant was found with a minor allele frequency of 0.0037 (2/532 alleles) in control subjects and was absent from the AD cases (Fernández et al., 2016).

In a study that included 18,959 Alzheimer’s cases and 21,893 control subjects from multiple European and American cohorts, this allele was observed 56 times—19 times among the AD cases and 37 times among the controls (Henne Holstege, personal communication).

Functional Consequences

The variant was predicted to be benign by PolyPhen-2 (Fernández et al., 2016).

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References

Paper Citations

1. Fernández MV, Black K, Carrell D, Saef B, Budde J, Deming Y, Howells B, Del-Aguila JL, Ma S, Bi C, Norton J, Chasse R, Morris J, Goate A, Cruchaga C, NIA-LOAD family study group, NCRAD. SORL1 variants across Alzheimer's disease European American cohorts. Eur J Hum Genet. 2016 Dec;24(12):1828-1830. Epub 2016 Sep 21 PubMed.

Further Reading

No Available Further Reading