chr17:7577580:T>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	chr17:7,577,580-7,577,580
hg38	chr17:7,674,262-7,674,262 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.701A>G	NP_000537.3:p.Tyr234Cys
	NM_001126112.2:c.701A>G	NP_001119584.1:p.Tyr234Cys
	NM_001276760.1:c.701A>G	NP_001263689.1:p.Tyr234Cys
	NM_001276761.1:c.701A>G	NP_001263690.1:p.Tyr234Cys
	NM_001126113.2:c.701A>G	NP_001119585.1:p.Tyr234Cys
	NM_001276695.1:c.701A>G	NP_001263624.1:p.Tyr234Cys
	NM_001126116.1:c.305A>G	NP_001119588.1:p.Tyr102Cys
	NM_001276698.1:c.305A>G	NP_001263627.1:p.Tyr102Cys
	NM_001126118.1:c.584A>G	NP_001119590.1:p.Tyr195Cys
	NM_001126117.1:c.224A>G	NP_001119589.1:p.Tyr75Cys
	NM_001276699.1:c.224A>G	NP_001263628.1:p.Tyr75Cys
	NM_001126115.1:c.224A>G	NP_001119587.1:p.Tyr75Cys
	NM_001276697.1:c.224A>G	NP_001263626.1:p.Tyr75Cys
	NM_001276696.1:c.584A>G	NP_001263625.1:p.Tyr195Cys
Ensemble	ENST00000576024.2:c.701A>G	ENST00000576024.2:p.Tyr234Cys
	ENST00000604348.6:c.680A>G	ENST00000604348.6:p.Tyr227Cys
	ENST00000504290.5:c.305A>G	ENST00000504290.5:p.Tyr102Cys
	ENST00000269305.9:c.701A>G	ENST00000269305.9:p.Tyr234Cys
	ENST00000359597.8:c.701A>G	ENST00000359597.8:p.Tyr234Cys
	ENST00000413465.6:c.701A>G	ENST00000413465.6:p.Tyr234Cys
	ENST00000420246.6:c.701A>G	ENST00000420246.6:p.Tyr234Cys
	ENST00000445888.6:c.701A>G	ENST00000445888.6:p.Tyr234Cys
	ENST00000455263.6:c.701A>G	ENST00000455263.6:p.Tyr234Cys
	ENST00000504937.5:c.305A>G	ENST00000504937.5:p.Tyr102Cys
	ENST00000510385.5:c.305A>G	ENST00000510385.5:p.Tyr102Cys
	ENST00000610292.4:c.584A>G	ENST00000610292.4:p.Tyr195Cys
	ENST00000610538.4:c.584A>G	ENST00000610538.4:p.Tyr195Cys
	ENST00000610623.4:c.224A>G	ENST00000610623.4:p.Tyr75Cys
	ENST00000618944.4:c.224A>G	ENST00000618944.4:p.Tyr75Cys
	ENST00000619186.4:c.224A>G	ENST00000619186.4:p.Tyr75Cys
	ENST00000619485.4:c.584A>G	ENST00000619485.4:p.Tyr195Cys
	ENST00000620739.4:c.584A>G	ENST00000620739.4:p.Tyr195Cys
	ENST00000622645.4:c.584A>G	ENST00000622645.4:p.Tyr195Cys
	ENST00000714356.1:c.584A>G	ENST00000714356.1:p.Tyr195Cys
	ENST00000714357.1:c.701A>G	ENST00000714357.1:p.Tyr234Cys
	ENST00000714359.1:c.701A>G	ENST00000714359.1:p.Tyr234Cys
	ENST00000714408.1:c.701A>G	ENST00000714408.1:p.Tyr234Cys
	ENST00000714409.1:c.701A>G	ENST00000714409.1:p.Tyr234Cys

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	38
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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	COSM3388193	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute
Likely pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	fundus of stomach	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	body of stomach	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	sigmoid colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	malignant neoplasm of rectum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	body of pancreas	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic		Others	somatic	MGS000038 (TMGS000091)	Manabu Muto Ichiro Kinoshita	Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
Likely pathogenic	2020/04/20	pyloric antrum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	sigmoid colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	malignant neoplasm of rectosigmoid junction	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	malignant neoplasm of rectum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	head of pancreas	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	body of pancreas	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	ill-defined sites within the digestive system	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	oesophagus, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	fundus of stomach	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	body of stomach	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	pyloric antrum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	malignant neoplasm of rectum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2019-05-11	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic Likely pathogenic	2024-01-21	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	glioblastoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	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	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	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	prostate adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	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	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	gastric adenocarcinoma	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	Squamous cell lung carcinoma	somatic	Detail
Pathogenic Likely pathogenic	2022-06-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Pathogenic Likely pathogenic	2024-02-16	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome 1	germline unknown	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
ovarian cancer	Carboplatin,Cisplatin	C	Predictive	Supports	Resistance	Somatic		11595686	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.369	Li-Fraumeni syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
Ovarian cancer patients with TP53 missense mutations were refractory to platinum-based chemotherapy ...	CIViC Evidence	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Glioblastoma	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Prostate adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Adrenal cortex carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Small cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) AND Li-Fraumeni syndrome 1	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: rs587780073 dbSNP
Genome: hg19
Position: chr17:7,577,580-7,577,580
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8650
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121332
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.241848811525402E-6
Variant (CIViC) (CIViC Variant): Y234C
Transcript 1 (CIViC Variant): ENST00000269305.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1068

Genome browser

chr17:7577580:T>C Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript