chr17:7577575:A>C 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	chr17:7,577,575-7,577,575
hg38	chr17:7,674,257-7,674,257 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126115.1:c.229T>G	NP_001119587.1:p.Tyr77Asp
	NM_001276697.1:c.229T>G	NP_001263626.1:p.Tyr77Asp
	NM_000546.5:c.706T>G	NP_000537.3:p.Tyr236Asp
	NM_001126112.2:c.706T>G	NP_001119584.1:p.Tyr236Asp
	NM_001276760.1:c.706T>G	NP_001263689.1:p.Tyr236Asp
	NM_001276761.1:c.706T>G	NP_001263690.1:p.Tyr236Asp
	NM_001276696.1:c.589T>G	NP_001263625.1:p.Tyr197Asp
	NM_001126113.2:c.706T>G	NP_001119585.1:p.Tyr236Asp
	NM_001276695.1:c.706T>G	NP_001263624.1:p.Tyr236Asp
	NM_001126116.1:c.310T>G	NP_001119588.1:p.Tyr104Asp
	NM_001276698.1:c.310T>G	NP_001263627.1:p.Tyr104Asp
	NM_001126118.1:c.589T>G	NP_001119590.1:p.Tyr197Asp
	NM_001126117.1:c.229T>G	NP_001119589.1:p.Tyr77Asp
	NM_001276699.1:c.229T>G	NP_001263628.1:p.Tyr77Asp
Ensemble	ENST00000604348.6:c.685T>G	ENST00000604348.6:p.Tyr229Asp
	ENST00000619186.4:c.229T>G	ENST00000619186.4:p.Tyr77Asp
	ENST00000619485.4:c.589T>G	ENST00000619485.4:p.Tyr197Asp
	ENST00000269305.9:c.706T>G	ENST00000269305.9:p.Tyr236Asp
	ENST00000359597.8:c.706T>G	ENST00000359597.8:p.Tyr236Asp
	ENST00000413465.6:c.706T>G	ENST00000413465.6:p.Tyr236Asp
	ENST00000620739.4:c.589T>G	ENST00000620739.4:p.Tyr197Asp
	ENST00000622645.4:c.589T>G	ENST00000622645.4:p.Tyr197Asp
	ENST00000714356.1:c.589T>G	ENST00000714356.1:p.Tyr197Asp
	ENST00000420246.6:c.706T>G	ENST00000420246.6:p.Tyr236Asp
	ENST00000445888.6:c.706T>G	ENST00000445888.6:p.Tyr236Asp
	ENST00000455263.6:c.706T>G	ENST00000455263.6:p.Tyr236Asp
	ENST00000504290.5:c.310T>G	ENST00000504290.5:p.Tyr104Asp
	ENST00000504937.5:c.310T>G	ENST00000504937.5:p.Tyr104Asp
	ENST00000510385.5:c.310T>G	ENST00000510385.5:p.Tyr104Asp
	ENST00000576024.2:c.706T>G	ENST00000576024.2:p.Tyr236Asp
	ENST00000714357.1:c.706T>G	ENST00000714357.1:p.Tyr236Asp
	ENST00000610292.4:c.589T>G	ENST00000610292.4:p.Tyr197Asp
	ENST00000610538.4:c.589T>G	ENST00000610538.4:p.Tyr197Asp
	ENST00000610623.4:c.229T>G	ENST00000610623.4:p.Tyr77Asp
	ENST00000618944.4:c.229T>G	ENST00000618944.4:p.Tyr77Asp
	ENST00000714359.1:c.706T>G	ENST00000714359.1:p.Tyr236Asp
	ENST00000714408.1:c.706T>G	ENST00000714408.1:p.Tyr236Asp
	ENST00000714409.1:c.706T>G	ENST00000714409.1:p.Tyr236Asp

Summary

MGeND

Clinical significance	not provided
Variant entry	7
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	COSM6939478	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Condition	Origin	Submission ID	Submitter	Institute
not provided	ill-defined sites within the digestive system	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	descending colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	ill-defined sites within the digestive system	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	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	2013-03-02	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	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	lung adenocarcinoma	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	Neoplasm of brain	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	ovarian serous cystadenocarcinoma	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	prostate adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell lung carcinoma	somatic	Detail
Uncertain significance	2020-03-05	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2024-02-16	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.706T>G (p.Tyr236Asp) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) AND Squamous cell carcinoma of the skin	ClinVar	Detail
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) AND Prostate adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) 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: rs587782289 dbSNP
Genome: hg19
Position: chr17:7,577,575-7,577,575
Variant Type: snv
Reference Allele: A
Alternative Allele: C

Genome browser

chr17:7577575:A>C Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript