chr17:7674238: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	chr17:7,577,556-7,577,556 View the variant detail on this assembly version.
hg38	chr17:7,674,238-7,674,238

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.725G>A	NP_000537.3:p.Cys242Tyr
	NM_001126112.2:c.725G>A	NP_001119584.1:p.Cys242Tyr
	NM_001276760.1:c.725G>A	NP_001263689.1:p.Cys242Tyr
	NM_001276761.1:c.725G>A	NP_001263690.1:p.Cys242Tyr
	NM_001126113.2:c.725G>A	NP_001119585.1:p.Cys242Tyr
	NM_001276695.1:c.725G>A	NP_001263624.1:p.Cys242Tyr
	NM_001126116.1:c.329G>A	NP_001119588.1:p.Cys110Tyr
	NM_001276698.1:c.329G>A	NP_001263627.1:p.Cys110Tyr
	NM_001126118.1:c.608G>A	NP_001119590.1:p.Cys203Tyr
	NM_001126117.1:c.248G>A	NP_001119589.1:p.Cys83Tyr
	NM_001276699.1:c.248G>A	NP_001263628.1:p.Cys83Tyr
	NM_001126115.1:c.248G>A	NP_001119587.1:p.Cys83Tyr
	NM_001276697.1:c.248G>A	NP_001263626.1:p.Cys83Tyr
	NM_001276696.1:c.608G>A	NP_001263625.1:p.Cys203Tyr
Ensemble	ENST00000269305.9:c.725G>A	ENST00000269305.9:p.Cys242Tyr
	ENST00000420246.6:c.725G>A	ENST00000420246.6:p.Cys242Tyr
	ENST00000445888.6:c.725G>A	ENST00000445888.6:p.Cys242Tyr
	ENST00000455263.6:c.725G>A	ENST00000455263.6:p.Cys242Tyr
	ENST00000504290.5:c.329G>A	ENST00000504290.5:p.Cys110Tyr
	ENST00000359597.8:c.725G>A	ENST00000359597.8:p.Cys242Tyr
	ENST00000413465.6:c.725G>A	ENST00000413465.6:p.Cys242Tyr
	ENST00000504937.5:c.329G>A	ENST00000504937.5:p.Cys110Tyr
	ENST00000510385.5:c.329G>A	ENST00000510385.5:p.Cys110Tyr
	ENST00000576024.2:c.725G>A	ENST00000576024.2:p.Cys242Tyr
	ENST00000604348.6:c.704G>A	ENST00000604348.6:p.Cys235Tyr
	ENST00000610292.4:c.608G>A	ENST00000610292.4:p.Cys203Tyr
	ENST00000610538.4:c.608G>A	ENST00000610538.4:p.Cys203Tyr
	ENST00000610623.4:c.248G>A	ENST00000610623.4:p.Cys83Tyr
	ENST00000618944.4:c.248G>A	ENST00000618944.4:p.Cys83Tyr
	ENST00000619186.4:c.248G>A	ENST00000619186.4:p.Cys83Tyr
	ENST00000619485.4:c.608G>A	ENST00000619485.4:p.Cys203Tyr
	ENST00000620739.4:c.608G>A	ENST00000620739.4:p.Cys203Tyr
	ENST00000622645.4:c.608G>A	ENST00000622645.4:p.Cys203Tyr
	ENST00000714356.1:c.608G>A	ENST00000714356.1:p.Cys203Tyr
	ENST00000714357.1:c.725G>A	ENST00000714357.1:p.Cys242Tyr
	ENST00000714359.1:c.725G>A	ENST00000714359.1:p.Cys242Tyr
	ENST00000714408.1:c.725G>A	ENST00000714408.1:p.Cys242Tyr
	ENST00000714409.1:c.725G>A	ENST00000714409.1:p.Cys242Tyr

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	COSM2744612	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1995-01-01	no assertion criteria provided	Li-fraumeni-like syndrome	germline	Detail
Pathogenic	2023-02-01	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-11-02	criteria provided, single submitter	Li-Fraumeni syndrome	germline	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	gastric adenocarcinoma	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	B-cell chronic lymphocytic 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	Squamous cell carcinoma of the head and neck	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular 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	glioblastoma	somatic	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Pathogenic	2022-05-04	criteria provided, single submitter	Familial cancer of breast	germline	Detail
Pathogenic Likely pathogenic	2024-02-16	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome 1	germline unknown	Detail
Pathogenic	2023-07-13	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.126	Li-fraumeni-like syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Li-fraumeni-like syndrome	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND B-cell chronic lymphocytic leukemia	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Uterine carcinosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Glioblastoma	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Familial cancer of breast	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND not provided	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: rs121912655 dbSNP
Genome: hg38
Position: chr17:7,674,238-7,674,238
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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