chr17:7578203:C>T 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	chr17:7,578,203-7,578,203
hg38	chr17:7,674,885-7,674,885 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126116.1:c.250G>A	NP_001119588.1:p.Val84Met
	NM_001276698.1:c.250G>A	NP_001263627.1:p.Val84Met
	NM_001126113.2:c.646G>A	NP_001119585.1:p.Val216Met
	NM_001276695.1:c.646G>A	NP_001263624.1:p.Val216Met
	NM_000546.5:c.646G>A	NP_000537.3:p.Val216Met
	NM_001126112.2:c.646G>A	NP_001119584.1:p.Val216Met
	NM_001276760.1:c.646G>A	NP_001263689.1:p.Val216Met
	NM_001276761.1:c.646G>A	NP_001263690.1:p.Val216Met
	NM_001126115.1:c.169G>A	NP_001119587.1:p.Val57Met
	NM_001276697.1:c.169G>A	NP_001263626.1:p.Val57Met
	NM_001126118.1:c.529G>A	NP_001119590.1:p.Val177Met
	NM_001126117.1:c.169G>A	NP_001119589.1:p.Val57Met
	NM_001276699.1:c.169G>A	NP_001263628.1:p.Val57Met
	NM_001276696.1:c.529G>A	NP_001263625.1:p.Val177Met
Ensemble	ENST00000504290.5:c.250G>A	ENST00000504290.5:p.Val84Met
	ENST00000576024.2:c.646G>A	ENST00000576024.2:p.Val216Met
	ENST00000604348.6:c.625G>A	ENST00000604348.6:p.Val209Met
	ENST00000510385.5:c.250G>A	ENST00000510385.5:p.Val84Met
	ENST00000445888.6:c.646G>A	ENST00000445888.6:p.Val216Met
	ENST00000504937.5:c.250G>A	ENST00000504937.5:p.Val84Met
	ENST00000455263.6:c.646G>A	ENST00000455263.6:p.Val216Met
	ENST00000420246.6:c.646G>A	ENST00000420246.6:p.Val216Met
	ENST00000269305.9:c.646G>A	ENST00000269305.9:p.Val216Met
	ENST00000359597.8:c.646G>A	ENST00000359597.8:p.Val216Met
	ENST00000413465.6:c.646G>A	ENST00000413465.6:p.Val216Met
	ENST00000619186.4:c.169G>A	ENST00000619186.4:p.Val57Met
	ENST00000619485.4:c.529G>A	ENST00000619485.4:p.Val177Met
	ENST00000610292.4:c.529G>A	ENST00000610292.4:p.Val177Met
	ENST00000610538.4:c.529G>A	ENST00000610538.4:p.Val177Met
	ENST00000610623.4:c.169G>A	ENST00000610623.4:p.Val57Met
	ENST00000618944.4:c.169G>A	ENST00000618944.4:p.Val57Met
	ENST00000620739.4:c.529G>A	ENST00000620739.4:p.Val177Met
	ENST00000622645.4:c.529G>A	ENST00000622645.4:p.Val177Met
	ENST00000714356.1:c.529G>A	ENST00000714356.1:p.Val177Met
	ENST00000714357.1:c.646G>A	ENST00000714357.1:p.Val216Met
	ENST00000714359.1:c.646G>A	ENST00000714359.1:p.Val216Met
	ENST00000714408.1:c.646G>A	ENST00000714408.1:p.Val216Met
	ENST00000714409.1:c.646G>A	ENST00000714409.1:p.Val216Met

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic not provided
Variant entry	29
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	COSM3388195	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute
Likely pathogenic	2020/04/20	transverse colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	descending colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	colon, unspecified	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	malignant neoplasm of rectum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	body of pancreas	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		Myelodysplastic syndromes	somatic	MGS000005 (TMGS000006)	Keizo Horibe	National Hospital Organization Nagoya Medical Center
Pathogenic		breast	somatic	MGS000038 (TMGS000091)	Manabu Muto Ichiro Kinoshita	Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
Likely pathogenic	2020/04/20	pyloric antrum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	duodenum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	caecum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	ascending colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	transverse colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	sigmoid colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	malignant neoplasm of rectosigmoid junction	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	ill-defined sites within the digestive system	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	middle third of oesophagus	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	lower third of oesophagus	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	colon, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	malignant neoplasm of rectum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2019-11-25	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic Likely pathogenic	2023-08-28	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	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	Neoplasm of brain	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		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	pancreatic adenocarcinoma	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
Likely pathogenic	2016-05-31	no assertion criteria provided	glioblastoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell carcinoma of the head and neck	somatic	Detail
Pathogenic Likely pathogenic	2021-04-16	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance		no assertion criteria provided	not specified	unknown	Detail
Likely pathogenic	2023-04-11	criteria provided, single submitter	Li-Fraumeni syndrome 1	unknown	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Likely pathogenic	2021-09-29	criteria provided, single submitter	Adrenocortical carcinoma, hereditary	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.369	Li-Fraumeni syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Squamous cell carcinoma of the skin	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Uterine carcinosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Glioblastoma	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND not specified	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Adrenocortical carcinoma, hereditary	ClinVar	Detail
NA	DisGeNET	Detail
NA	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: rs730882025 dbSNP
Genome: hg19
Position: chr17:7,578,203-7,578,203
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser

chr17:7578203:C>T Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript