rs28934578
| Li Fraumeni (but see note below) |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8 | info@snpedia.com would like to hear from you |
| (A;G) | 4 | Li-Fraumeni syndrome?? (an inherited cancer predisposition - but see note below) |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 7675088 |
| Gene | TP53 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28934578 |
| dbSNP (classic) | rs28934578 |
| ClinGen | rs28934578 |
| ebi | rs28934578 |
| HLI | rs28934578 |
| Exac | rs28934578 |
| Gnomad | rs28934578 |
| Varsome | rs28934578 |
| LitVar | rs28934578 |
| Map | rs28934578 |
| PheGenI | rs28934578 |
| Biobank | rs28934578 |
| 1000 genomes | rs28934578 |
| hgdp | rs28934578 |
| ensembl | rs28934578 |
| geneview | rs28934578 |
| scholar | rs28934578 |
| rs28934578 | |
| pharmgkb | rs28934578 |
| gwascentral | rs28934578 |
| openSNP | rs28934578 |
| 23andMe | rs28934578 |
| SNPshot | rs28934578 |
| SNPdbe | rs28934578 |
| MSV3d | rs28934578 |
| GWAS Ctlg | rs28934578 |
| Max Magnitude | 8 |
rs28934578, also known as 721G>A, R175H and Arg175His, is a SNP in the p53 TP53 tumor suppressor gene.
Other variations in this gene are associated with a associated with predisposition to cancer in the form of Li-Fraumeni syndrome .
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
]
Note: We have noticed a statistically unlikely increase in the number of customers of one DNA testing company who's genotype for this SNP is being reported as heterozygous. This is likely a technical error (the customers are actually likely to be carrying the normal, unmutated genotype for this SNP). Anyone who receives a report indicating they carry a mutation at this SNP should seek to have a clinically validated test carried out if they have either a significant family history of cancer or if they have any concerns about this.
| ClinVar | |
|---|---|
| Risk | Rs28934578(A;A) rs28934578(T;T) |
| Alt | Rs28934578(A;A) rs28934578(T;T) |
| Reference | Rs28934578(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome not provided Malignant tumor of esophagus Neoplasm Neoplasm of breast |
| Variation | info |
| Gene | TP53 |
| CLNDBN | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome not provided Malignant tumor of esophagus Neoplasm Neoplasm of breast |
| Reversed | 1 |
| HGVS | NC_000017.10:g.7578406C>A; NC_000017.10:g.7578406C>T |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000161065.2, RCV000013173.21, RCV000131301.6, RCV000204931.3, RCV000213054.3, RCV000239398.1, RCV000421746.1, RCV000428918.1, |
