chr17:7674216:C>A Detail (hg38) (TP53)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.747G>T	NP_000537.3:p.Arg249Ser
	NM_001126112.2:c.747G>T	NP_001119584.1:p.Arg249Ser
	NM_001276760.1:c.747G>T	NP_001263689.1:p.Arg249Ser
	NM_001276761.1:c.747G>T	NP_001263690.1:p.Arg249Ser
	NM_001126113.2:c.747G>T	NP_001119585.1:p.Arg249Ser
	NM_001276695.1:c.747G>T	NP_001263624.1:p.Arg249Ser
	NM_001126116.1:c.351G>T	NP_001119588.1:p.Arg117Ser
	NM_001276698.1:c.351G>T	NP_001263627.1:p.Arg117Ser
	NM_001126117.1:c.270G>T	NP_001119589.1:p.Arg90Ser
	NM_001276699.1:c.270G>T	NP_001263628.1:p.Arg90Ser
	NM_001126115.1:c.270G>T	NP_001119587.1:p.Arg90Ser
	NM_001276697.1:c.270G>T	NP_001263626.1:p.Arg90Ser
	NM_001126118.1:c.630G>T	NP_001119590.1:p.Arg210Ser
	NM_001276696.1:c.630G>T	NP_001263625.1:p.Arg210Ser
Ensemble	ENST00000610538.4:c.630G>T	ENST00000610538.4:p.Arg210Ser
	ENST00000619485.4:c.630G>T	ENST00000619485.4:p.Arg210Ser
	ENST00000269305.9:c.747G>T	ENST00000269305.9:p.Arg249Ser
	ENST00000359597.8:c.747G>T	ENST00000359597.8:p.Arg249Ser
	ENST00000413465.6:c.747G>T	ENST00000413465.6:p.Arg249Ser
	ENST00000420246.6:c.747G>T	ENST00000420246.6:p.Arg249Ser
	ENST00000445888.6:c.747G>T	ENST00000445888.6:p.Arg249Ser
	ENST00000455263.6:c.747G>T	ENST00000455263.6:p.Arg249Ser
	ENST00000504290.5:c.351G>T	ENST00000504290.5:p.Arg117Ser
	ENST00000504937.5:c.351G>T	ENST00000504937.5:p.Arg117Ser
	ENST00000510385.5:c.351G>T	ENST00000510385.5:p.Arg117Ser
	ENST00000576024.2:c.747G>T	ENST00000576024.2:p.Arg249Ser
	ENST00000610623.4:c.270G>T	ENST00000610623.4:p.Arg90Ser
	ENST00000618944.4:c.270G>T	ENST00000618944.4:p.Arg90Ser
	ENST00000619186.4:c.270G>T	ENST00000619186.4:p.Arg90Ser
	ENST00000604348.6:c.726G>T	ENST00000604348.6:p.Arg242Ser
	ENST00000610292.4:c.630G>T	ENST00000610292.4:p.Arg210Ser
	ENST00000620739.4:c.630G>T	ENST00000620739.4:p.Arg210Ser
	ENST00000622645.4:c.630G>T	ENST00000622645.4:p.Arg210Ser
	ENST00000714356.1:c.630G>T	ENST00000714356.1:p.Arg210Ser
	ENST00000714357.1:c.747G>T	ENST00000714357.1:p.Arg249Ser
	ENST00000714359.1:c.747G>T	ENST00000714359.1:p.Arg249Ser
	ENST00000714408.1:c.747G>T	ENST00000714408.1:p.Arg249Ser
	ENST00000714409.1:c.747G>T	ENST00000714409.1:p.Arg249Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

TP53

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

[No Data.]

MGeND

[No Data.]

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

Descrption	Source	Links
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: hg38
Position: chr17:7,674,216-7,674,216
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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