rs28934577

minus

Geno	Mag	Summary
(A;A)	0
(A;T)	6	pathogenic/causal mutation for Li-Fraumeni syndrome
(G;T)	7	Li-Fraumeni Syndrome (predicted)
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

17

Position

7674193

Gene

TP53

is a	snp
is	mentioned by
dbSNP	rs28934577
dbSNP (classic)	rs28934577
ClinGen	rs28934577
ebi	rs28934577
HLI	rs28934577
Exac	rs28934577
Gnomad	rs28934577
Varsome	rs28934577
LitVar	rs28934577
Map	rs28934577
PheGenI	rs28934577
Biobank	rs28934577
1000 genomes	rs28934577
hgdp	rs28934577
ensembl	rs28934577
geneview	rs28934577
scholar	rs28934577
google	rs28934577
pharmgkb	rs28934577
gwascentral	rs28934577
openSNP	rs28934577
23andMe	rs28934577
SNPshot	rs28934577
SNPdbe	rs28934577
MSV3d	rs28934577
GWAS Ctlg	rs28934577

Max Magnitude

7

rs28934577, also known as Leu257Gln or L257Q, is a SNP in the p53 TP53 tumor suppressor gene.

The rare rs28934577(A) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.[PMID 8134127]

ClinVar annotates this as both pathogenic, and, "likely pathogenic"; see also OMIM 191170.0028

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	MULTIPLE MALIGNANCY SYNDROME
Variant	0028
Related	also

ClinVar
Risk	Rs28934577(A;A) rs28934577(G;G)
Alt	Rs28934577(A;A) rs28934577(G;G)
Reference	Rs28934577(T;T)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Li-Fraumeni-like syndrome Li-Fraumeni syndrome
Variation	info
Gene	TP53
CLNDBN	Hereditary cancer-predisposing syndrome Li-Fraumeni-like syndrome Li-Fraumeni syndrome
Reversed	1
HGVS	NC_000017.10:g.7577511A>C; NC_000017.10:g.7577511A>T
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000130981.2, RCV000013171.20, RCV000469142.1,