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rs121912664

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 pathogenic/causal mutation for Li-Fraumeni syndrome
(G;G) 0 common in clinvar


Make rs121912664(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position7670699
GeneTP53
is asnp
is mentioned by
dbSNPrs121912664
ebirs121912664
HLIrs121912664
Exacrs121912664
Varsomers121912664
Maprs121912664
PheGenIrs121912664
hapmaprs121912664
1000 genomesrs121912664
hgdprs121912664
ensemblrs121912664
gopubmedrs121912664
geneviewrs121912664
scholarrs121912664
googlers121912664
pharmgkbrs121912664
gwascentralrs121912664
openSNPrs121912664
23andMers121912664
23andMe allrs121912664
SNP Nexus

SNPshotrs121912664
SNPdbers121912664
MSV3drs121912664
GWAS Ctlgrs121912664
Max Magnitude6
OMIM191170
Desc
Variant0035
Relatedalso
ClinVar
Risk rs121912664(A,C,T;A,C,T)
Alt rs121912664(A,C,T;A,C,T)
Reference rs121912664(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma
Variation info
Gene TP53
CLNDBN Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, pediatric
Reversed 1
HGVS NC_000017.10:g.7574017C>A; NC_000017.10:g.7574017C>G; NC_000017.10:g.7574017C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000132259.2, RCV000154527.1, RCV000013178.23, RCV000128923.2, RCV000197240.3,



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] Compulsory 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.