rs28934872
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | Tuberous sclerosis |
| (A;G) | 6.3 | Tuberous Sclerosis Complex |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 2070571 |
| Gene | TSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28934872 |
| dbSNP (classic) | rs28934872 |
| ClinGen | rs28934872 |
| ebi | rs28934872 |
| HLI | rs28934872 |
| Exac | rs28934872 |
| Gnomad | rs28934872 |
| Varsome | rs28934872 |
| LitVar | rs28934872 |
| Map | rs28934872 |
| PheGenI | rs28934872 |
| Biobank | rs28934872 |
| 1000 genomes | rs28934872 |
| hgdp | rs28934872 |
| ensembl | rs28934872 |
| geneview | rs28934872 |
| scholar | rs28934872 |
| rs28934872 | |
| pharmgkb | rs28934872 |
| gwascentral | rs28934872 |
| openSNP | rs28934872 |
| 23andMe | rs28934872 |
| SNPshot | rs28934872 |
| SNPdbe | rs28934872 |
| MSV3d | rs28934872 |
| GWAS Ctlg | rs28934872 |
| Max Magnitude | 6.3 |
rs28934872 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 9463313
]
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 191092.0006
| ClinVar | |
|---|---|
| Risk | Rs28934872(A;A) |
| Alt | Rs28934872(A;A) |
| Reference | Rs28934872(G;G) |
| Significance | Pathogenic |
| Disease | Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis not provided Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | TSC2 |
| CLNDBN | Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis not provided Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2120572G>A |
| CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC2) UniProtKB (protein) |
| CLNACC | RCV000013205.19, RCV000042946.2, RCV000055317.4, RCV000414340.1, RCV000491426.1, |
[PMID 111126] [Effect of the trace element supply on element dependent enzymes in man].
[PMID 9829910] Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
[PMID 10570911] Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
[PMID 12111193] TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
[PMID 15595939] Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
[PMID 16032769] Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene.
[PMID 17304050] Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
