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rs28934574

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 possible association with Li-Fraumeni-like syndrome
(G;G) 0
Make rs28934574(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position7673776
GeneTP53
is asnp
is mentioned by
dbSNPrs28934574
ClinGenrs28934574
ebirs28934574
HLIrs28934574
Exacrs28934574
Varsomers28934574
Maprs28934574
PheGenIrs28934574
hapmaprs28934574
1000 genomesrs28934574
hgdprs28934574
ensemblrs28934574
gopubmedrs28934574
geneviewrs28934574
scholarrs28934574
googlers28934574
pharmgkbrs28934574
gwascentralrs28934574
openSNPrs28934574
23andMers28934574
23andMe allrs28934574
SNP Nexus

SNPshotrs28934574
SNPdbers28934574
MSV3drs28934574
GWAS Ctlgrs28934574
Max Magnitude3.5

rs28934574, also known as Arg282Trp or R282W, is a SNP in the p53 TP53 tumor suppressor gene.

The rare rs28934574(T) allele is associated with predisposition to cancer in the form of a condition denoted Li-Fraumeni syndrome-like in OMIM.[PMID 1565143]

However, there is conflicting evidence in ClinVar as to whether this really is a pathogenic (causal) variant; some submitters indicate is benign while others say it is indeed pathogenic.

See also OMIM 191170.0018

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
Variant0018
Relatedalso
Neighborrs28934271
Distance222
Neighborrs28934576
Distance26


ClinVar
Risk Rs28934574(G;G) rs28934574(T;T)
Alt Rs28934574(G;G) rs28934574(T;T)
Reference Rs28934574(C;C)
Significance Other
Disease Li-Fraumeni-like syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome not provided Malignant lymphoma Malignant melanoma of skin Glioblastoma Squamous cell carcinoma of lung Squamous cell carcinoma of the skin Ovarian Serous Cystadenocarcinoma Adenocarcinoma of prostate Colorectal Neoplasms Hepatocellular carcinoma Transitional cell carcinoma of the bladder Neoplasm of breast Pancreatic adenocarcinoma Adenocarcinoma of stomach Oesophageal carcinoma Adenocarcinoma of lung Squamous cell carcinoma of the head and neck Renal cell carcinoma Neoplasm of brain Malignant neoplasm of body of uterus
Variation info
Gene TP53
CLNDBN Li-Fraumeni-like syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome not provided Malignant lymphoma, non-Hodgkin Malignant melanoma of skin Glioblastoma Squamous cell carcinoma of lung Squamous cell carcinoma of the skin Ovarian Serous Cystadenocarcinoma Adenocarcinoma of prostate Colorectal Neoplasms Hepatocellular carcinoma Transitional cell carcinoma of the bladder Neoplasm of breast Pancreatic adenocarcinoma Adenocarcinoma of stomach Oesophageal carcinoma Adenocarcinoma of lung Squamous cell carcinoma of the head and neck Renal cell carcinoma Neoplasm of brain Malignant neoplasm of body of uterus
Reversed 1
HGVS NC_000017.10:g.7577094G>A; NC_000017.10:g.7577094G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013161.22, RCV000144670.1, RCV000148905.5, RCV000210145.1, RCV000236400.2, RCV000417906.1, RCV000420798.1, RCV000422920.1, RCV000423580.1, RCV000424430.1, RCV000425909.1, RCV000426680.1, RCV000430759.1, RCV000431084.1, RCV000432561.1, RCV000433225.1, RCV000434706.1, RCV000435581.1, RCV000436175.1, RCV000437607.1, RCV000441472.1, RCV000442231.1, RCV000444544.1, RCV000444687.1, RCV000129010.3, RCV000419333.1, RCV000419993.1, RCV000422134.1, RCV000422367.1, RCV000422747.1, RCV000425179.1, RCV000427647.1, RCV000430047.1, RCV000430393.1, RCV000431764.1, RCV000432433.1, RCV000435503.1, RCV000437219.1, RCV000437895.1, RCV000440446.1, RCV000440653.1, RCV000442540.1, RCV000442627.1, RCV000445294.1,