rs45517259 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 17120248]

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249]

See also OMIM 191092.0013




[PMID 9829910] Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.


[PMID 11112665] Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.


[PMID 17120248] Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

rs45517259

Parent Gene: TSC2

Importance: 1
Less common allele: None = None
More common allele: None = None
My Genotype: Log In
Risk Allele: A
Significance: Pathogenic