chr17:7577099:C>G Detail (hg19) (TP53)

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

Information

Genome

Assembly	Position
hg19	chr17:7,577,099-7,577,099
hg38	chr17:7,673,781-7,673,781 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126116.1:c.443G>C	NP_001119588.1:p.Arg148Thr
	NM_001276698.1:c.443G>C	NP_001263627.1:p.Arg148Thr
	NM_001126113.2:c.839G>C	NP_001119585.1:p.Arg280Thr
	NM_001276695.1:c.839G>C	NP_001263624.1:p.Arg280Thr
	NM_000546.5:c.839G>C	NP_000537.3:p.Arg280Thr
	NM_001126112.2:c.839G>C	NP_001119584.1:p.Arg280Thr
	NM_001276760.1:c.839G>C	NP_001263689.1:p.Arg280Thr
	NM_001276761.1:c.839G>C	NP_001263690.1:p.Arg280Thr
	NM_001126118.1:c.722G>C	NP_001119590.1:p.Arg241Thr
	NM_001126117.1:c.362G>C	NP_001119589.1:p.Arg121Thr
	NM_001276699.1:c.362G>C	NP_001263628.1:p.Arg121Thr
	NM_001126115.1:c.362G>C	NP_001119587.1:p.Arg121Thr
	NM_001276697.1:c.362G>C	NP_001263626.1:p.Arg121Thr
	NM_001276696.1:c.722G>C	NP_001263625.1:p.Arg241Thr
Ensemble	ENST00000576024.2:c.839G>C	ENST00000576024.2:p.Arg280Thr
	ENST00000504937.5:c.443G>C	ENST00000504937.5:p.Arg148Thr
	ENST00000604348.6:c.818G>C	ENST00000604348.6:p.Arg273Thr
	ENST00000504290.5:c.443G>C	ENST00000504290.5:p.Arg148Thr
	ENST00000510385.5:c.443G>C	ENST00000510385.5:p.Arg148Thr
	ENST00000455263.6:c.839G>C	ENST00000455263.6:p.Arg280Thr
	ENST00000269305.9:c.839G>C	ENST00000269305.9:p.Arg280Thr
	ENST00000359597.8:c.839G>C	ENST00000359597.8:p.Arg280Thr
	ENST00000413465.6:c.782+400G>C
	ENST00000420246.6:c.839G>C	ENST00000420246.6:p.Arg280Thr
	ENST00000445888.6:c.839G>C	ENST00000445888.6:p.Arg280Thr
	ENST00000610292.4:c.722G>C	ENST00000610292.4:p.Arg241Thr
	ENST00000610538.4:c.722G>C	ENST00000610538.4:p.Arg241Thr
	ENST00000610623.4:c.362G>C	ENST00000610623.4:p.Arg121Thr
	ENST00000618944.4:c.362G>C	ENST00000618944.4:p.Arg121Thr
	ENST00000619186.4:c.362G>C	ENST00000619186.4:p.Arg121Thr
	ENST00000619485.4:c.722G>C	ENST00000619485.4:p.Arg241Thr
	ENST00000620739.4:c.722G>C	ENST00000620739.4:p.Arg241Thr
	ENST00000622645.4:c.722G>C	ENST00000622645.4:p.Arg241Thr
	ENST00000714356.1:c.722G>C	ENST00000714356.1:p.Arg241Thr
	ENST00000714357.1:c.839G>C	ENST00000714357.1:p.Arg280Thr
	ENST00000714359.1:c.839G>C	ENST00000714359.1:p.Arg280Thr
	ENST00000714408.1:c.839G>C	ENST00000714408.1:p.Arg280Thr
	ENST00000714409.1:c.839G>C	ENST00000714409.1:p.Arg280Thr

Summary

MGeND

Clinical significance	Pathogenic not provided
Variant entry	10
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	COSM3733332	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Condition	Origin	Submission ID	Submitter	Institute
not provided	bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	NSCLC	somatic	MGS000038 (TMGS000091)	Manabu Muto Ichiro Kinoshita	Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
not provided	malignant neoplasm of rectum	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	oesophagus, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1992-07-15	no assertion criteria provided	Nasopharyngeal carcinoma	somatic	Detail
Likely pathogenic	2023-09-11	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Small cell lung carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of uterine cervix	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	acute myeloid leukemia	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell carcinoma of the head and neck	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	ovarian serous cystadenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell lung carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant melanoma of skin	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Nasopharyngeal neoplasm	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of brain	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	uterine carcinosarcoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Carcinoma of esophagus	somatic	Detail
Pathogenic	2021-06-10	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic		no assertion criteria provided	Malignant tumor of urinary bladder	somatic	Detail
Likely pathogenic	2024-02-20	criteria provided, single submitter	Li-Fraumeni syndrome 1	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.369	Li-Fraumeni syndrome	NA	CLINVAR		Detail
0.261	Nasopharyngeal carcinoma	NA	CLINVAR		Detail
0.329	Glioma	Our observations indicate that the R280T mutation of p53 regulates the prolifera...	BeFree	22999923	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Nasopharyngeal carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Small cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Neoplasm of uterine cervix	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Acute myeloid leukemia	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Squamous cell carcinoma of the skin	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Malignant melanoma of skin	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Nasopharyngeal neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Uterine carcinosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Malignant tumor of urinary bladder	ClinVar	Detail
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Our observations indicate that the R280T mutation of p53 regulates the proliferation of human glioma...	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: rs121912660 dbSNP
Genome: hg19
Position: chr17:7,577,099-7,577,099
Variant Type: snv
Reference Allele: C
Alternative Allele: G

Genome browser

chr17:7577099:C>G Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript