rs121912664
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 7 | Li-Fraumeni Syndrome (predicted) |
| (C;G) | 7 | Li-Fraumeni Syndrome (predicted) |
| (G;G) | 0 | common in clinvar |
| (G;T) | 7 | Li-Fraumeni Syndrome (predicted) |
| Make rs121912664(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 7670699 |
| Gene | TP53 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912664 |
| dbSNP (classic) | rs121912664 |
| ClinGen | rs121912664 |
| ebi | rs121912664 |
| HLI | rs121912664 |
| Exac | rs121912664 |
| Gnomad | rs121912664 |
| Varsome | rs121912664 |
| LitVar | rs121912664 |
| Map | rs121912664 |
| PheGenI | rs121912664 |
| Biobank | rs121912664 |
| 1000 genomes | rs121912664 |
| hgdp | rs121912664 |
| ensembl | rs121912664 |
| geneview | rs121912664 |
| scholar | rs121912664 |
| rs121912664 | |
| pharmgkb | rs121912664 |
| gwascentral | rs121912664 |
| openSNP | rs121912664 |
| 23andMe | rs121912664 |
| SNPshot | rs121912664 |
| SNPdbe | rs121912664 |
| MSV3d | rs121912664 |
| GWAS Ctlg | rs121912664 |
| Max Magnitude | 7 |
| ClinVar | |
|---|---|
| Risk | rs121912664(A;A) rs121912664(C;C) rs121912664(T;T) |
| Alt | rs121912664(A;A) rs121912664(C;C) rs121912664(T;T) |
| Reference | Rs121912664(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma Neoplasm of breast not provided |
| Variation | info |
| Gene | TP53 |
| CLNDBN | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, pediatric Neoplasm of breast not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.7574017C>A; NC_000017.10:g.7574017C>G; NC_000017.10:g.7574017C>T |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000132259.3, RCV000154527.1, RCV000013178.23, RCV000128923.4, RCV000197240.4, RCV000413754.1, RCV000481814.1, |
While Li-Fraumeni syndrome is typically a rare disorder, a founder effect has resulted in 1 person in 375 from Southern Brazil carrying the R337H variant. Thus, unexpectedly, upwards of 300,000 Brazilians might be affected by this otherwise rare disease. [PMID 27663983
] Broad, voluntary newborn screening found 0.27% of newborns were carriers in the Southern Brazilian state of Paraná. [PMID 23733769]
dbsnp reports from Exac that the disease genotype is exceptionally rare. (T=0.000009/1) However, the Brazilian frequency of the T genotype is 300 times higher. On closer examination, Exac actually reports that from a sample of ethnic groups from all over the world representing over 100,000 alleles only 1 carried the R337H variant. This single carrier was of Latino heritage.
