chr17:7674953:T>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	chr17:7,578,271-7,578,271 View the variant detail on this assembly version.
hg38	chr17:7,674,953-7,674,953

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.578A>T	NP_000537.3:p.His193Leu
	NM_001126112.2:c.578A>T	NP_001119584.1:p.His193Leu
	NM_001276760.1:c.578A>T	NP_001263689.1:p.His193Leu
	NM_001276761.1:c.578A>T	NP_001263690.1:p.His193Leu
	NM_001126113.2:c.578A>T	NP_001119585.1:p.His193Leu
	NM_001276695.1:c.578A>T	NP_001263624.1:p.His193Leu
	NM_001126116.1:c.182A>T	NP_001119588.1:p.His61Leu
	NM_001276698.1:c.182A>T	NP_001263627.1:p.His61Leu
	NM_001126118.1:c.461A>T	NP_001119590.1:p.His154Leu
	NM_001126117.1:c.101A>T	NP_001119589.1:p.His34Leu
	NM_001276699.1:c.101A>T	NP_001263628.1:p.His34Leu
	NM_001126115.1:c.101A>T	NP_001119587.1:p.His34Leu
	NM_001276697.1:c.101A>T	NP_001263626.1:p.His34Leu
	NM_001276696.1:c.461A>T	NP_001263625.1:p.His154Leu
Ensemble	ENST00000269305.9:c.578A>T	ENST00000269305.9:p.His193Leu
	ENST00000359597.8:c.578A>T	ENST00000359597.8:p.His193Leu
	ENST00000413465.6:c.578A>T	ENST00000413465.6:p.His193Leu
	ENST00000420246.6:c.578A>T	ENST00000420246.6:p.His193Leu
	ENST00000445888.6:c.578A>T	ENST00000445888.6:p.His193Leu
	ENST00000455263.6:c.578A>T	ENST00000455263.6:p.His193Leu
	ENST00000504290.5:c.182A>T	ENST00000504290.5:p.His61Leu
	ENST00000504937.5:c.182A>T	ENST00000504937.5:p.His61Leu
	ENST00000510385.5:c.182A>T	ENST00000510385.5:p.His61Leu
	ENST00000576024.2:c.578A>T	ENST00000576024.2:p.His193Leu
	ENST00000604348.6:c.557A>T	ENST00000604348.6:p.His186Leu
	ENST00000610292.4:c.461A>T	ENST00000610292.4:p.His154Leu
	ENST00000610538.4:c.461A>T	ENST00000610538.4:p.His154Leu
	ENST00000610623.4:c.101A>T	ENST00000610623.4:p.His34Leu
	ENST00000618944.4:c.101A>T	ENST00000618944.4:p.His34Leu
	ENST00000619186.4:c.101A>T	ENST00000619186.4:p.His34Leu
	ENST00000619485.4:c.461A>T	ENST00000619485.4:p.His154Leu
	ENST00000620739.4:c.461A>T	ENST00000620739.4:p.His154Leu
	ENST00000622645.4:c.461A>T	ENST00000622645.4:p.His154Leu
	ENST00000714356.1:c.461A>T	ENST00000714356.1:p.His154Leu
	ENST00000714357.1:c.578A>T	ENST00000714357.1:p.His193Leu
	ENST00000714359.1:c.578A>T	ENST00000714359.1:p.His193Leu
	ENST00000714408.1:c.578A>T	ENST00000714408.1:p.His193Leu
	ENST00000714409.1:c.578A>T	ENST00000714409.1:p.His193Leu

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	COSM2744772	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2020-09-25	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Carcinoma of esophagus	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	Small cell lung carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	B-cell chronic lymphocytic leukemia	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	prostate adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant neoplasm of body of uterus	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	Squamous cell lung carcinoma	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	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	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	Papillary renal cell carcinoma, sporadic	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	lung 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	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Uncertain significance	2021-04-02	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Likely pathogenic	2024-02-15	criteria provided, single submitter	Li-Fraumeni syndrome 1	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Small cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND B-cell chronic lymphocytic leukemia	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Prostate adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Brainstem glioma	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Acute myeloid leukemia	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Uterine carcinosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Papillary renal cell carcinoma, sporadic	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Li-Fraumeni syndrome 1	ClinVar	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: rs786201838 dbSNP
Genome: hg38
Position: chr17:7,674,953-7,674,953
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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