chr17:7674229:C>T 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	chr17:7,577,547-7,577,547 View the variant detail on this assembly version.
hg38	chr17:7,674,229-7,674,229

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.734G>A	NP_000537.3:p.Gly245Asp
	NM_001126112.2:c.734G>A	NP_001119584.1:p.Gly245Asp
	NM_001276760.1:c.734G>A	NP_001263689.1:p.Gly245Asp
	NM_001276761.1:c.734G>A	NP_001263690.1:p.Gly245Asp
	NM_001126113.2:c.734G>A	NP_001119585.1:p.Gly245Asp
	NM_001276695.1:c.734G>A	NP_001263624.1:p.Gly245Asp
	NM_001126116.1:c.338G>A	NP_001119588.1:p.Gly113Asp
	NM_001276698.1:c.338G>A	NP_001263627.1:p.Gly113Asp
	NM_001126118.1:c.617G>A	NP_001119590.1:p.Gly206Asp
	NM_001126117.1:c.257G>A	NP_001119589.1:p.Gly86Asp
	NM_001276699.1:c.257G>A	NP_001263628.1:p.Gly86Asp
	NM_001126115.1:c.257G>A	NP_001119587.1:p.Gly86Asp
	NM_001276697.1:c.257G>A	NP_001263626.1:p.Gly86Asp
	NM_001276696.1:c.617G>A	NP_001263625.1:p.Gly206Asp
Ensemble	ENST00000714357.1:c.734G>A	ENST00000714357.1:p.Gly245Asp
	ENST00000714359.1:c.734G>A	ENST00000714359.1:p.Gly245Asp
	ENST00000714408.1:c.734G>A	ENST00000714408.1:p.Gly245Asp
	ENST00000714409.1:c.734G>A	ENST00000714409.1:p.Gly245Asp
	ENST00000269305.9:c.734G>A	ENST00000269305.9:p.Gly245Asp
	ENST00000359597.8:c.734G>A	ENST00000359597.8:p.Gly245Asp
	ENST00000413465.6:c.734G>A	ENST00000413465.6:p.Gly245Asp
	ENST00000420246.6:c.734G>A	ENST00000420246.6:p.Gly245Asp
	ENST00000445888.6:c.734G>A	ENST00000445888.6:p.Gly245Asp
	ENST00000455263.6:c.734G>A	ENST00000455263.6:p.Gly245Asp
	ENST00000504290.5:c.338G>A	ENST00000504290.5:p.Gly113Asp
	ENST00000504937.5:c.338G>A	ENST00000504937.5:p.Gly113Asp
	ENST00000510385.5:c.338G>A	ENST00000510385.5:p.Gly113Asp
	ENST00000576024.2:c.734G>A	ENST00000576024.2:p.Gly245Asp
	ENST00000604348.6:c.713G>A	ENST00000604348.6:p.Gly238Asp
	ENST00000610292.4:c.617G>A	ENST00000610292.4:p.Gly206Asp
	ENST00000610538.4:c.617G>A	ENST00000610538.4:p.Gly206Asp
	ENST00000610623.4:c.257G>A	ENST00000610623.4:p.Gly86Asp
	ENST00000618944.4:c.257G>A	ENST00000618944.4:p.Gly86Asp
	ENST00000619186.4:c.257G>A	ENST00000619186.4:p.Gly86Asp
	ENST00000619485.4:c.617G>A	ENST00000619485.4:p.Gly206Asp
	ENST00000620739.4:c.617G>A	ENST00000620739.4:p.Gly206Asp
	ENST00000622645.4:c.617G>A	ENST00000622645.4:p.Gly206Asp
	ENST00000714356.1:c.617G>A	ENST00000714356.1:p.Gly206Asp

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	COSM3388189	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2022-06-18	criteria provided, single submitter	Li-Fraumeni syndrome 1	germline	Detail
Pathogenic Likely pathogenic	2022-08-31	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-12-28	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	ovarian serous cystadenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	prostate adenocarcinoma	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	glioblastoma	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	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		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	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		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	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell lung carcinoma	somatic	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Pathogenic Likely pathogenic	2023-03-31	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-11-10	criteria provided, single submitter	Adrenocortical carcinoma, hereditary	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.441	Li-Fraumeni syndrome 1	NA	CLINVAR		Detail
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
<0.001	Primary myelofibrosis	A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre...	BeFree	22052707	Detail
<0.001	Primary myelofibrosis	A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre...	BeFree	22052707	Detail
<0.001	Primary myelofibrosis	A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre...	BeFree	22052707	Detail
<0.001	Primary myelofibrosis	A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre...	BeFree	22052707	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Prostate adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Glioblastoma	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Brainstem glioma	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Uterine carcinosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) AND Adrenocortical carcinoma, hereditary	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati...	DisGeNET	Detail
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati...	DisGeNET	Detail
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati...	DisGeNET	Detail
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati...	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: rs121912656 dbSNP
Genome: hg38
Position: chr17:7,674,229-7,674,229
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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