rs28934872

A SNP in the TSC2 gene on chromosome 16. Its most notable genotype is A;G: Tuberous Sclerosis Complex

Gene
TSC2
Location
Chr 162,070,571 (GRCh38)
Highest magnitude
6.3Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;ABadTuberous sclerosisVery important · 4.0
  2. A;GMost notableBadTuberous Sclerosis ComplexVery important · 6.3
  3. G;GGoodcommon in clinvarTypical · 0.0

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other TSC2 SNPs

All TSC2 SNPs

Notes

From SNPedia

Show notes, about 180 words

rs28934872 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner. 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. See also OMIM 191092.0006 [Effect of the trace element supply on element dependent enzymes in man]. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

A;A

Tuberous sclerosis

Source and license

Adapted from rs28934872 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.