chr17:7577534:C>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,534-7,577,534
hg38 chr17:7,674,216-7,674,216 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126113.2:c.747G>T NP_001119585.1:p.Arg249Ser
NM_001276695.1:c.747G>T NP_001263624.1:p.Arg249Ser
NM_000546.5:c.747G>T NP_000537.3:p.Arg249Ser
Summary

MGeND

Clinical significance not provided other
Variant entry 34
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 191170 OMIM
HGNC 11998 HGNC
Ensembl ENSG00000141510 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM3717634 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided extrahepatic bile duct not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
other Solitary fibrous tumor, malignant (morphologic abnormality) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided Ovarian cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Non-small cell lung cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided lung cancer somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
not provided colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided head of pancreas not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided lower third of oesophagus not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1992-05-02 no assertion criteria provided hepatocellular carcinoma somatic Detail
Pathogenic 1992-05-02 no assertion criteria provided cervical cancer somatic Detail
Pathogenic Likely pathogenic 2023-05-08 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome germline Detail
Pathogenic Likely pathogenic 2022-07-27 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2021-03-19 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic criteria provided, single submitter Squamous cell carcinoma of the head and neck somatic Detail
Pathogenic 2021-03-11 criteria provided, single submitter not provided germline Detail
Likely pathogenic no assertion criteria provided Adrenal cortex carcinoma somatic Detail
Likely pathogenic 2024-02-16 criteria provided, single submitter Li-Fraumeni syndrome 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.511 liver carcinoma NA CLINVAR Detail
0.037 hepatitis B Hepatocellular carcinoma (HCC) is associated with hepatitis B virus (HBV) chroni... BeFree 23200676 Detail
0.037 hepatitis B Most HCC are associated with chronic infection by Hepatitis B Virus while a G → ... BeFree 22675488 Detail
0.124 hepatoblastoma It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protei... BeFree 16799619 Detail
0.511 liver carcinoma Next, we discuss the significance of R249S as a biomarker to study the natural h... BeFree 19376640 Detail
0.003 hepatocellular adenoma It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protei... BeFree 16799619 Detail
0.511 liver carcinoma TP53 R249S mutations, exposure to aflatoxin, and occurrence of hepatocellular ca... BeFree 19366907 Detail
0.511 liver carcinoma Association between HBX status, aflatoxin-induced R249S TP53 mutation and risk o... BeFree 23200676 Detail
0.511 liver carcinoma Effects of the TP53 p.R249S mutant on proliferation and clonogenic properties in... BeFree 20538734 Detail
0.017 Hepatocarcinogenesis In addition, an arginine to serine mutation at codon 249 of the p53 tumor suppre... BeFree 24078988 Detail
0.511 liver carcinoma HCC often harbors a TP53 (tumor protein p53) mutation at codon 249 (R249S). BeFree 21768053 Detail
0.080 Carcinogenesis To understand the biological function of mutant p53 in tumorigenesis, we constru... BeFree 12509279 Detail
<0.001 hepatoblastoma It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protei... BeFree 16799619 Detail
0.004 liver carcinoma Although its metabolites bind at several positions in TP53, a mutation at codon ... BeFree 20538734 Detail
0.511 liver carcinoma TP53 R249S mutation, genetic variations in HBX and risk of hepatocellular carcin... BeFree 22759751 Detail
0.037 hepatitis B Seasonal variation in TP53 R249S-mutated serum DNA with aflatoxin exposure and h... BeFree 21768053 Detail
0.002 liver carcinoma Although its metabolites bind at several positions in TP53, a mutation at codon ... BeFree 20538734 Detail
0.037 hepatitis B There is evidence that R249S occurs as the result of mutagenesis by aflatoxin in... BeFree 19376640 Detail
0.037 hepatitis B In regions with high prevalence of chronic hepatitis B virus (HBV) infection and... BeFree 22759751 Detail
0.213 cervix carcinoma NA CLINVAR Detail
<0.001 hepatocellular adenoma It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protei... BeFree 16799619 Detail
0.037 hepatitis B Effects of the TP53 p.R249S mutant on proliferation and clonogenic properties in... BeFree 20538734 Detail
<0.001 Congenital absence of liver Aflatoxin-induced TP53 R249S mutation in hepatocellular carcinoma in Thailand: a... BeFree 22675488 Detail
<0.001 hepatocellular adenoma It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protei... BeFree 16799619 Detail
0.511 liver carcinoma Aflatoxin-induced TP53 R249S mutation in hepatocellular carcinoma in Thailand: a... BeFree 22675488 Detail
0.130 hepatoblastoma It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protei... BeFree 16799619 Detail
0.511 liver carcinoma Association between TP53 R249S mutation and polymorphisms in TP53 intron 1 in he... BeFree 23836507 Detail
0.037 hepatitis B Hepatitis B virus genetic variation and TP53 R249S mutation in patients with hep... BeFree 23886144 Detail
0.012 liver cirrhosis Aflatoxin-induced TP53 R249S mutation in hepatocellular carcinoma in Thailand: a... BeFree 22675488 Detail
0.511 liver carcinoma Hepatitis B virus genetic variation and TP53 R249S mutation in patients with hep... BeFree 23886144 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) AND Cervical cancer ClinVar Detail
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) AND not provided ClinVar Detail
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) AND Adrenal cortex carcinoma ClinVar Detail
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) AND Li-Fraumeni syndrome 1 ClinVar Detail
NA DisGeNET Detail
Hepatocellular carcinoma (HCC) is associated with hepatitis B virus (HBV) chronicity and dietary exp... DisGeNET Detail
Most HCC are associated with chronic infection by Hepatitis B Virus while a G → T mutation at codon ... DisGeNET Detail
It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protein p53) mutation in a... DisGeNET Detail
Next, we discuss the significance of R249S as a biomarker to study the natural history of HCC and as... DisGeNET Detail
It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protein p53) mutation in a... DisGeNET Detail
TP53 R249S mutations, exposure to aflatoxin, and occurrence of hepatocellular carcinoma in a cohort ... DisGeNET Detail
Association between HBX status, aflatoxin-induced R249S TP53 mutation and risk of hepatocellular car... DisGeNET Detail
Effects of the TP53 p.R249S mutant on proliferation and clonogenic properties in human hepatocellula... DisGeNET Detail
In addition, an arginine to serine mutation at codon 249 of the p53 tumor suppressor gene is produce... DisGeNET Detail
HCC often harbors a TP53 (tumor protein p53) mutation at codon 249 (R249S). DisGeNET Detail
To understand the biological function of mutant p53 in tumorigenesis, we constructed a number of p53... DisGeNET Detail
It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protein p53) mutation in a... DisGeNET Detail
Although its metabolites bind at several positions in TP53, a mutation at codon 249 (AGG to AGT, arg... DisGeNET Detail
TP53 R249S mutation, genetic variations in HBX and risk of hepatocellular carcinoma in The Gambia. DisGeNET Detail
Seasonal variation in TP53 R249S-mutated serum DNA with aflatoxin exposure and hepatitis B virus inf... DisGeNET Detail
Although its metabolites bind at several positions in TP53, a mutation at codon 249 (AGG to AGT, arg... DisGeNET Detail
There is evidence that R249S occurs as the result of mutagenesis by aflatoxin in a context of HBV ch... DisGeNET Detail
In regions with high prevalence of chronic hepatitis B virus (HBV) infection and dietary aflatoxin B... DisGeNET Detail
NA DisGeNET Detail
It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protein p53) mutation in a... DisGeNET Detail
Effects of the TP53 p.R249S mutant on proliferation and clonogenic properties in human hepatocellula... DisGeNET Detail
Aflatoxin-induced TP53 R249S mutation in hepatocellular carcinoma in Thailand: association with tumo... DisGeNET Detail
It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protein p53) mutation in a... DisGeNET Detail
Aflatoxin-induced TP53 R249S mutation in hepatocellular carcinoma in Thailand: association with tumo... DisGeNET Detail
It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protein p53) mutation in a... DisGeNET Detail
Association between TP53 R249S mutation and polymorphisms in TP53 intron 1 in hepatocellular carcino... DisGeNET Detail
Hepatitis B virus genetic variation and TP53 R249S mutation in patients with hepatocellular carcinom... DisGeNET Detail
Aflatoxin-induced TP53 R249S mutation in hepatocellular carcinoma in Thailand: association with tumo... DisGeNET Detail
Hepatitis B virus genetic variation and TP53 R249S mutation in patients with hepatocellular carcinom... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs28934571 dbSNP
Genome
hg19
Position
chr17:7,577,534-7,577,534
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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