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, |