chr17:7578211: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	chr17:7,578,211-7,578,211
hg38	chr17:7,674,893-7,674,893 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126116.1:c.242G>C	NP_001119588.1:p.Arg81Pro
	NM_001276698.1:c.242G>C	NP_001263627.1:p.Arg81Pro
	NM_001126117.1:c.161G>C	NP_001119589.1:p.Arg54Pro
	NM_001276699.1:c.161G>C	NP_001263628.1:p.Arg54Pro
	NM_000546.5:c.638G>C	NP_000537.3:p.Arg213Pro
	NM_001126112.2:c.638G>C	NP_001119584.1:p.Arg213Pro
	NM_001276760.1:c.638G>C	NP_001263689.1:p.Arg213Pro
	NM_001276761.1:c.638G>C	NP_001263690.1:p.Arg213Pro
	NM_001126113.2:c.638G>C	NP_001119585.1:p.Arg213Pro
	NM_001276695.1:c.638G>C	NP_001263624.1:p.Arg213Pro
	NM_001126118.1:c.521G>C	NP_001119590.1:p.Arg174Pro
	NM_001126115.1:c.161G>C	NP_001119587.1:p.Arg54Pro
	NM_001276697.1:c.161G>C	NP_001263626.1:p.Arg54Pro
	NM_001276696.1:c.521G>C	NP_001263625.1:p.Arg174Pro
Ensemble	ENST00000510385.5:c.242G>C	ENST00000510385.5:p.Arg81Pro
	ENST00000576024.2:c.638G>C	ENST00000576024.2:p.Arg213Pro
	ENST00000604348.6:c.617G>C	ENST00000604348.6:p.Arg206Pro
	ENST00000420246.6:c.638G>C	ENST00000420246.6:p.Arg213Pro
	ENST00000610623.4:c.161G>C	ENST00000610623.4:p.Arg54Pro
	ENST00000618944.4:c.161G>C	ENST00000618944.4:p.Arg54Pro
	ENST00000269305.9:c.638G>C	ENST00000269305.9:p.Arg213Pro
	ENST00000359597.8:c.638G>C	ENST00000359597.8:p.Arg213Pro
	ENST00000413465.6:c.638G>C	ENST00000413465.6:p.Arg213Pro
	ENST00000445888.6:c.638G>C	ENST00000445888.6:p.Arg213Pro
	ENST00000455263.6:c.638G>C	ENST00000455263.6:p.Arg213Pro
	ENST00000714359.1:c.638G>C	ENST00000714359.1:p.Arg213Pro
	ENST00000504290.5:c.242G>C	ENST00000504290.5:p.Arg81Pro
	ENST00000504937.5:c.242G>C	ENST00000504937.5:p.Arg81Pro
	ENST00000610292.4:c.521G>C	ENST00000610292.4:p.Arg174Pro
	ENST00000610538.4:c.521G>C	ENST00000610538.4:p.Arg174Pro
	ENST00000714408.1:c.638G>C	ENST00000714408.1:p.Arg213Pro
	ENST00000714409.1:c.638G>C	ENST00000714409.1:p.Arg213Pro
	ENST00000619186.4:c.161G>C	ENST00000619186.4:p.Arg54Pro
	ENST00000619485.4:c.521G>C	ENST00000619485.4:p.Arg174Pro
	ENST00000620739.4:c.521G>C	ENST00000620739.4:p.Arg174Pro
	ENST00000622645.4:c.521G>C	ENST00000622645.4:p.Arg174Pro
	ENST00000714356.1:c.521G>C	ENST00000714356.1:p.Arg174Pro
	ENST00000714357.1:c.638G>C	ENST00000714357.1:p.Arg213Pro

Summary

MGeND

Clinical significance	not provided
Variant entry	3
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	COSM3717653	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		descending colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2024-01-12	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	prostate adenocarcinoma	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		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	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	Breast neoplasm	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	adenoid cystic carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Papillary renal cell carcinoma type 1	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	Adrenal cortex carcinoma	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	glioblastoma	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 the large intestine	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	uterine carcinosarcoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant neoplasm of body of uterus	somatic	Detail
Likely pathogenic	2016-11-02	criteria provided, single submitter	not specified	germline	Detail
Likely pathogenic	2022-06-18	criteria provided, single submitter	Li-Fraumeni syndrome 1	germline	Detail
Pathogenic	2023-09-09	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
stomach carcinoma	EAP Protocol	C	Predictive	Supports	Sensitivity/Response	Somatic		14514923	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In a study of 25 patients with advanced gastric cancer, mutations in TP53 were identified in 32% of ...	CIViC Evidence	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Prostate adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Squamous cell carcinoma of the skin	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Adenoid cystic carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Papillary renal cell carcinoma type 1	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Malignant melanoma of skin	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Adrenal cortex carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Glioblastoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Nasopharyngeal neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Uterine carcinosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND not specified	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) AND Li-Fraumeni syndrome	ClinVar	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: rs587778720 dbSNP
Genome: hg19
Position: chr17:7,578,211-7,578,211
Variant Type: snv
Reference Allele: C
Alternative Allele: G
Variant (CIViC) (CIViC Variant): R213P
Transcript 1 (CIViC Variant): ENST00000269305.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1109

Genome browser

chr17:7578211:C>G Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript