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rs28934575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 7 Li-Fraumeni Syndrome (predicted)
(C;C) 0
(G;G) 0 common in clinvar
(G;T) 7 Li-Fraumeni Syndrome (predicted)


Make rs28934575(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position7674230
GeneTP53
is asnp
is mentioned by
dbSNPrs28934575
dbSNP (classic)rs28934575
ClinGenrs28934575
ebirs28934575
HLIrs28934575
Exacrs28934575
Gnomadrs28934575
Varsomers28934575
LitVarrs28934575
Maprs28934575
PheGenIrs28934575
Biobankrs28934575
1000 genomesrs28934575
hgdprs28934575
ensemblrs28934575
geneviewrs28934575
scholarrs28934575
googlers28934575
pharmgkbrs28934575
gwascentralrs28934575
openSNPrs28934575
23andMers28934575
SNPshotrs28934575
SNPdbers28934575
MSV3drs28934575
GWAS Ctlgrs28934575
Max Magnitude7

rs28934575, also known as Gly245Ser or G245S, is a SNP in the p53 TP53 tumor suppressor gene.

The rare rs28934575(A) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.[PMID 1565143]

This mutation is consistently marked as either pathogenic (causal) or likely pathogenic in ClinVar; see also OMIM 191170.0019.

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 23788249OA-icon.png]

OMIM191170
DescOSTEOSARCOMA
Variant0019
Relatedalso



ClinVar
Risk rs28934575(A;A) Rs28934575(C;C) rs28934575(T;T)
Alt rs28934575(A;A) Rs28934575(C;C) rs28934575(T;T)
Reference Rs28934575(G;G)
Significance Pathogenic
Disease Li-Fraumeni syndrome 1 not provided Uterine Carcinosarcoma Adenocarcinoma of lung Neoplasm of breast Ovarian Serous Cystadenocarcinoma Adenocarcinoma of stomach Glioblastoma Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Adenocarcinoma of prostate Brainstem glioma Squamous cell carcinoma of the head and neck Squamous cell carcinoma of lung Oesophageal carcinoma Neoplasm of brain Hepatocellular carcinoma Colorectal Neoplasms Hereditary cancer-predisposing syndrome Li-Fraumeni-like syndrome Adenocarcinoma Li-Fraumeni syndrome Neoplasm
Variation info
Gene TP53
CLNDBN Li-Fraumeni syndrome 1 not provided Uterine Carcinosarcoma Adenocarcinoma of lung Neoplasm of breast Ovarian Serous Cystadenocarcinoma Adenocarcinoma of stomach Glioblastoma Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Adenocarcinoma of prostate Brainstem glioma Squamous cell carcinoma of the head and neck Squamous cell carcinoma of lung Oesophageal carcinoma Neoplasm of brain Hepatocellular carcinoma Colorectal Neoplasms Hereditary cancer-predisposing syndrome Li-Fraumeni-like syndrome Adenocarcinoma Li-Fraumeni syndrome Neoplasm
Reversed 1
HGVS NC_000017.10:g.7577548C>A; NC_000017.10:g.7577548C>G; NC_000017.10:g.7577548C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein) HGMD
CLNACC RCV000013142.22, RCV000161025.2, RCV000417593.1, RCV000418673.1, RCV000419737.1, RCV000423577.1, RCV000424262.1, RCV000425471.1, RCV000426090.1, RCV000428895.1, RCV000430002.1, RCV000434535.1, RCV000436186.1, RCV000436330.1, RCV000440197.1, RCV000440886.1, RCV000441334.1, RCV000443435.1, RCV000492412.1, RCV000418277.1, RCV000419444.1, RCV000420527.1, RCV000424643.1, RCV000425790.1, RCV000426804.1, RCV000429713.1, RCV000430767.1, RCV000431462.1, RCV000432081.1, RCV000436041.1, RCV000437043.1, RCV000439119.1, RCV000441708.1, RCV000444043.1, RCV000444128.1, RCV000013162.20, RCV000130147.6, RCV000144669.1, RCV000148909.1, RCV000154014.4, RCV000226657.2, RCV000417419.1, RCV000419767.1, RCV000420452.1, RCV000421457.1, RCV000425581.1, RCV000426307.1, RCV000426990.1, RCV000428113.1, RCV000430925.1, RCV000432120.1, RCV000432898.1, RCV000436979.1, RCV000437643.1, RCV000438107.1, RCV000438801.1, RCV000442506.1, RCV000442529.1,