rs28934573

Orientation

minus

Stabilized

minus

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

Make rs28934573(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7674241

Gene

TP53

is a	snp
is	mentioned by
dbSNP	rs28934573
dbSNP (classic)	rs28934573
ClinGen	rs28934573
ebi	rs28934573
HLI	rs28934573
Exac	rs28934573
Gnomad	rs28934573
Varsome	rs28934573
LitVar	rs28934573
Map	rs28934573
PheGenI	rs28934573
Biobank	rs28934573
1000 genomes	rs28934573
hgdp	rs28934573
ensembl	rs28934573
geneview	rs28934573
scholar	rs28934573
google	rs28934573
pharmgkb	rs28934573
gwascentral	rs28934573
openSNP	rs28934573
23andMe	rs28934573
SNPshot	rs28934573
SNPdbe	rs28934573
MSV3d	rs28934573
GWAS Ctlg	rs28934573

Max Magnitude

7

rs28934573, also known as Ser241Phe or S241F, is a SNP in the p53 TP53 tumor suppressor gene.

The rare rs28934573(T) allele is associated with predisposition to cancer in the form of Li-Fraumeni syndrome 1.[PMID 1565143]

This mutation is marked pathogenic (causal) in ClinVar; see also OMIM 191170.0013

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]

ser241-to-phe (S241F)

OMIM	191170
Desc	HEPATOBLASTOMA
Variant	0013
Related	also

ClinVar
Risk	rs28934573(A;A) Rs28934573(G;G) rs28934573(T;T)
Alt	rs28934573(A;A) Rs28934573(G;G) rs28934573(T;T)
Reference	Rs28934573(C;C)
Significance	Pathogenic
Disease	Hepatoblastoma Osteosarcoma Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the skin Malignant lymphoma Brainstem glioma Oesophageal carcinoma Neoplasm of breast Squamous cell carcinoma of the head and neck Uterine Carcinosarcoma Adenocarcinoma of lung Malignant melanoma of skin Papillary renal cell carcinoma Neoplasm of brain Glioblastoma Malignant neoplasm of body of uterus Transitional cell carcinoma of the bladder Colorectal Neoplasms Pancreatic adenocarcinoma Ovarian Serous Cystadenocarcinoma Carcinoma of gallbladder Renal cell carcinoma Li-Fraumeni syndrome not provided
Variation	info
Gene	TP53
CLNDBN	Hepatoblastoma Osteosarcoma Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the skin Malignant lymphoma, non-Hodgkin Brainstem glioma Oesophageal carcinoma Neoplasm of breast Squamous cell carcinoma of the head and neck Uterine Carcinosarcoma Adenocarcinoma of lung Malignant melanoma of skin Papillary renal cell carcinoma, sporadic Neoplasm of brain Glioblastoma Malignant neoplasm of body of uterus Transitional cell carcinoma of the bladder Colorectal Neoplasms Pancreatic adenocarcinoma Ovarian Serous Cystadenocarcinoma Carcinoma of gallbladder Renal cell carcinoma Li-Fraumeni syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.7577559G>A; NC_000017.10:g.7577559G>C; NC_000017.10:g.7577559G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013153.24, RCV000013154.22, RCV000130168.3, RCV000417576.1, RCV000418653.1, RCV000421750.1, RCV000422867.1, RCV000423921.1, RCV000426268.1, RCV000426907.1, RCV000428255.1, RCV000429321.1, RCV000430665.1, RCV000433125.1, RCV000434173.1, RCV000435867.1, RCV000436527.1, RCV000436959.1, RCV000438965.1, RCV000441398.1, RCV000441622.1, RCV000444801.1, RCV000154419.1, RCV000236210.1, RCV000417965.1, RCV000419417.1, RCV000420364.1, RCV000422573.1, RCV000425780.1, RCV000426195.1, RCV000426900.1, RCV000428236.1, RCV000429339.1, RCV000430604.1, RCV000431373.1, RCV000432564.1, RCV000437089.1, RCV000438178.1, RCV000438488.1, RCV000439098.1, RCV000439590.1, RCV000442616.1, RCV000442642.1, RCV000492778.1, RCV000418625.1, RCV000419713.1, RCV000420813.1, RCV000421131.1, RCV000423572.1, RCV000424972.1, RCV000425344.1, RCV000426095.1, RCV000430014.1, RCV000430987.1, RCV000431755.1, RCV000432092.1, RCV000436296.1, RCV000437363.1, RCV000438864.1, RCV000440216.1, RCV000441261.1, RCV000441902.1, RCV000441922.1,