chr17:7673781: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	chr17:7,577,099-7,577,099 View the variant detail on this assembly version.
hg38	chr17:7,673,781-7,673,781

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.839G>T	NP_000537.3:p.Arg280Ile
	NM_001126112.2:c.839G>T	NP_001119584.1:p.Arg280Ile
	NM_001276760.1:c.839G>T	NP_001263689.1:p.Arg280Ile
	NM_001276761.1:c.839G>T	NP_001263690.1:p.Arg280Ile
	NM_001126113.2:c.839G>T	NP_001119585.1:p.Arg280Ile
	NM_001276695.1:c.839G>T	NP_001263624.1:p.Arg280Ile
	NM_001126116.1:c.443G>T	NP_001119588.1:p.Arg148Ile
	NM_001276698.1:c.443G>T	NP_001263627.1:p.Arg148Ile
	NM_001126118.1:c.722G>T	NP_001119590.1:p.Arg241Ile
	NM_001126117.1:c.362G>T	NP_001119589.1:p.Arg121Ile
	NM_001276699.1:c.362G>T	NP_001263628.1:p.Arg121Ile
	NM_001126115.1:c.362G>T	NP_001119587.1:p.Arg121Ile
	NM_001276697.1:c.362G>T	NP_001263626.1:p.Arg121Ile
	NM_001276696.1:c.722G>T	NP_001263625.1:p.Arg241Ile
Ensemble	ENST00000269305.9:c.839G>T	ENST00000269305.9:p.Arg280Ile
	ENST00000359597.8:c.839G>T	ENST00000359597.8:p.Arg280Ile
	ENST00000413465.6:c.782+400G>T
	ENST00000420246.6:c.839G>T	ENST00000420246.6:p.Arg280Ile
	ENST00000445888.6:c.839G>T	ENST00000445888.6:p.Arg280Ile
	ENST00000455263.6:c.839G>T	ENST00000455263.6:p.Arg280Ile
	ENST00000714359.1:c.839G>T	ENST00000714359.1:p.Arg280Ile
	ENST00000714408.1:c.839G>T	ENST00000714408.1:p.Arg280Ile
	ENST00000714409.1:c.839G>T	ENST00000714409.1:p.Arg280Ile
	ENST00000504290.5:c.443G>T	ENST00000504290.5:p.Arg148Ile
	ENST00000504937.5:c.443G>T	ENST00000504937.5:p.Arg148Ile
	ENST00000510385.5:c.443G>T	ENST00000510385.5:p.Arg148Ile
	ENST00000576024.2:c.839G>T	ENST00000576024.2:p.Arg280Ile
	ENST00000604348.6:c.818G>T	ENST00000604348.6:p.Arg273Ile
	ENST00000610292.4:c.722G>T	ENST00000610292.4:p.Arg241Ile
	ENST00000610538.4:c.722G>T	ENST00000610538.4:p.Arg241Ile
	ENST00000610623.4:c.362G>T	ENST00000610623.4:p.Arg121Ile
	ENST00000618944.4:c.362G>T	ENST00000618944.4:p.Arg121Ile
	ENST00000619186.4:c.362G>T	ENST00000619186.4:p.Arg121Ile
	ENST00000619485.4:c.722G>T	ENST00000619485.4:p.Arg241Ile
	ENST00000620739.4:c.722G>T	ENST00000620739.4:p.Arg241Ile
	ENST00000622645.4:c.722G>T	ENST00000622645.4:p.Arg241Ile
	ENST00000714356.1:c.722G>T	ENST00000714356.1:p.Arg241Ile
	ENST00000714357.1:c.839G>T	ENST00000714357.1:p.Arg280Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM3723939	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance		no assertion criteria provided	Malignant tumor of prostate	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	ovarian serous cystadenocarcinoma	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		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	somatic	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	Neoplasm of uterine cervix	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	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	Carcinoma of esophagus	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Nasopharyngeal neoplasm	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	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	uterine carcinosarcoma	somatic	Detail
Uncertain significance	2017-09-20	criteria provided, single submitter	Li-Fraumeni syndrome	germline	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>T (p.Arg280Ile) AND Malignant tumor of prostate	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Malignant melanoma of skin	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Acute myeloid leukemia	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Small cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Neoplasm of uterine cervix	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Nasopharyngeal neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Squamous cell carcinoma of the skin	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Uterine carcinosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) 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: hg38
Position: chr17:7,673,781-7,673,781
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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