rs28934576

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	5	Li-Fraumeni Syndrome
(A;G)	7	Li-Fraumeni Syndrome (predicted)
(G;G)	0	common in clinvar
(G;T)	7	Li-Fraumeni Syndrome (predicted)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7673802

Gene

TP53

is a	snp
is	mentioned by
dbSNP	rs28934576
dbSNP (classic)	rs28934576
ClinGen	rs28934576
ebi	rs28934576
HLI	rs28934576
Exac	rs28934576
Gnomad	rs28934576
Varsome	rs28934576
LitVar	rs28934576
Map	rs28934576
PheGenI	rs28934576
Biobank	rs28934576
1000 genomes	rs28934576
hgdp	rs28934576
ensembl	rs28934576
geneview	rs28934576
scholar	rs28934576
google	rs28934576
pharmgkb	rs28934576
gwascentral	rs28934576
openSNP	rs28934576
23andMe	rs28934576
SNPshot	rs28934576
SNPdbe	rs28934576
MSV3d	rs28934576
GWAS Ctlg	rs28934576

GMAF

0.0004591

Max Magnitude

7

rs28934576, also known as Arg273His or R273H, is a SNP in the p53 TP53 tumor suppressor gene. The minor allele is denoted as pathogenic (causal) in ClinVar.

The rare rs28934576(A) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.[PMID 1565144]

[PMID 10645809] Germline p53 Mutation in a Case of Li-Fraumeni Syndrome Presenting Gastric Cancer. A germline missense mutation CGT (Arg, wild type) to CAT (His) substitution at codon 273 of the p53 gene, causing Li-Fraumeni Syndrome with a gastric cancer in a Japanese. PCR direct sequencing analysis revealed a germline missense mutation in exon 8, causing a substitution of CAT (His) for CGT (Arg).

See also OMIM 191170.20

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
Variant	0020
Related	also

ClinVar
Risk	Rs28934576(A;A) rs28934576(C;C) rs28934576(T;T)
Alt	Rs28934576(A;A) rs28934576(C;C) rs28934576(T;T)
Reference	Rs28934576(G;G)
Significance	Pathogenic
Disease	Pancreatic adenocarcinoma Neoplasm of brain Squamous cell carcinoma of the head and neck Chronic lymphocytic leukemia Colorectal Neoplasms Adenocarcinoma of lung Medulloblastoma Adrenocortical carcinoma Malignant melanoma of skin Brainstem glioma Malignant neoplasm of body of uterus Adenocarcinoma of prostate Acute myeloid leukemia Oesophageal carcinoma Hepatocellular carcinoma Small cell lung cancer Multiple myeloma Adenocarcinoma of stomach Neoplasm of breast Uterine Carcinosarcoma Squamous cell carcinoma of lung Ovarian Serous Cystadenocarcinoma Transitional cell carcinoma of the bladder Glioblastoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Thyroid cancer not provided Neoplasm Li-Fraumeni syndrome
Variation	info
Gene	TP53
CLNDBN	Pancreatic adenocarcinoma Neoplasm of brain Squamous cell carcinoma of the head and neck Chronic lymphocytic leukemia Colorectal Neoplasms Adenocarcinoma of lung Medulloblastoma Adrenocortical carcinoma Malignant melanoma of skin Brainstem glioma Malignant neoplasm of body of uterus Adenocarcinoma of prostate Acute myeloid leukemia Oesophageal carcinoma Hepatocellular carcinoma Small cell lung cancer Multiple myeloma Adenocarcinoma of stomach Neoplasm of breast Uterine Carcinosarcoma Squamous cell carcinoma of lung Ovarian Serous Cystadenocarcinoma Transitional cell carcinoma of the bladder Glioblastoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Thyroid cancer, anaplastic not provided Neoplasm Li-Fraumeni syndrome
Reversed	1
HGVS	NC_000017.10:g.7577120C>A; NC_000017.10:g.7577120C>G; NC_000017.10:g.7577120C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000418536.1, RCV000418738.1, RCV000421259.1, RCV000423490.1, RCV000423633.1, RCV000423981.1, RCV000425890.1, RCV000426132.1, RCV000427314.1, RCV000428692.1, RCV000429444.1, RCV000431067.1, RCV000433315.1, RCV000434296.1, RCV000434695.1, RCV000435767.1, RCV000436818.1, RCV000437048.1, RCV000438507.1, RCV000441792.1, RCV000442241.1, RCV000444109.1, RCV000444782.1, RCV000444989.1, RCV000222860.1, RCV000418732.1, RCV000419080.1, RCV000419328.1, RCV000419898.1, RCV000420123.1, RCV000421059.1, RCV000422030.1, RCV000426561.1, RCV000426712.1, RCV000427328.1, RCV000427811.1, RCV000429434.1, RCV000429654.1, RCV000431744.1, RCV000431835.1, RCV000434099.1, RCV000436356.1, RCV000437116.1, RCV000437377.1, RCV000439039.1, RCV000439246.1, RCV000440313.1, RCV000442511.1, RCV000444938.1, RCV000013163.21, RCV000013164.5, RCV000115738.6, RCV000254693.2, RCV000418930.1, RCV000419960.1, RCV000422097.1, RCV000422733.1, RCV000423826.1, RCV000424109.1, RCV000424218.1, RCV000424627.1, RCV000424833.1, RCV000428779.1, RCV000429822.1, RCV000430161.1, RCV000431361.1, RCV000433409.1, RCV000434044.1, RCV000435547.1, RCV000436207.1, RCV000437210.1, RCV000439513.1, RCV000440474.1, RCV000440815.1, RCV000441169.1, RCV000443907.1, RCV000444851.1, RCV000444900.1, RCV000463420.1,