rs28934873

minus

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

Make rs28934873(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7675214

Gene

TP53

is a	snp
is	mentioned by
dbSNP	rs28934873
dbSNP (classic)	rs28934873
ClinGen	rs28934873
ebi	rs28934873
HLI	rs28934873
Exac	rs28934873
Gnomad	rs28934873
Varsome	rs28934873
LitVar	rs28934873
Map	rs28934873
PheGenI	rs28934873
Biobank	rs28934873
1000 genomes	rs28934873
hgdp	rs28934873
ensembl	rs28934873
geneview	rs28934873
scholar	rs28934873
google	rs28934873
pharmgkb	rs28934873
gwascentral	rs28934873
openSNP	rs28934873
23andMe	rs28934873
SNPshot	rs28934873
SNPdbe	rs28934873
MSV3d	rs28934873
GWAS Ctlg	rs28934873

Max Magnitude

7

rs28934573, also known as Met133Thr or M133T, is a SNP in the p53 TP53 tumor suppressor gene.

The rare rs28934573(C) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.[PMID 1933902]

This allele is considered pathogenic (causal) in ClinVar; see also OMIM 191170.0011.

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 ]

OMIM	191170
Desc	LI-FRAUMENI SYNDROME 1
Variant	0011
Related	also

ClinVar
Risk	rs28934873(C;C)
Alt	rs28934873(C;C)
Reference	Rs28934873(T;T)
Significance	Pathogenic
Disease	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome
Variation	info
Gene	TP53
CLNDBN	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.7578532A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013151.22, RCV000492130.1,