chr17:7674872:T>G Detail (hg38) (TP53)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr17:7,578,190-7,578,190 View the variant detail on this assembly version.
hg38	chr17:7,674,872-7,674,872

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.659A>C	NP_000537.3:p.Tyr220Ser
	NM_001126112.2:c.659A>C	NP_001119584.1:p.Tyr220Ser
	NM_001276760.1:c.659A>C	NP_001263689.1:p.Tyr220Ser
	NM_001276761.1:c.659A>C	NP_001263690.1:p.Tyr220Ser
	NM_001126113.2:c.659A>C	NP_001119585.1:p.Tyr220Ser
	NM_001276695.1:c.659A>C	NP_001263624.1:p.Tyr220Ser
	NM_001126116.1:c.263A>C	NP_001119588.1:p.Tyr88Ser
	NM_001276698.1:c.263A>C	NP_001263627.1:p.Tyr88Ser
	NM_001126118.1:c.542A>C	NP_001119590.1:p.Tyr181Ser
	NM_001126117.1:c.182A>C	NP_001119589.1:p.Tyr61Ser
	NM_001276699.1:c.182A>C	NP_001263628.1:p.Tyr61Ser
	NM_001126115.1:c.182A>C	NP_001119587.1:p.Tyr61Ser
	NM_001276697.1:c.182A>C	NP_001263626.1:p.Tyr61Ser
	NM_001276696.1:c.542A>C	NP_001263625.1:p.Tyr181Ser
Ensemble	ENST00000269305.9:c.659A>C	ENST00000269305.9:p.Tyr220Ser
	ENST00000359597.8:c.659A>C	ENST00000359597.8:p.Tyr220Ser
	ENST00000413465.6:c.659A>C	ENST00000413465.6:p.Tyr220Ser
	ENST00000420246.6:c.659A>C	ENST00000420246.6:p.Tyr220Ser
	ENST00000445888.6:c.659A>C	ENST00000445888.6:p.Tyr220Ser
	ENST00000455263.6:c.659A>C	ENST00000455263.6:p.Tyr220Ser
	ENST00000504290.5:c.263A>C	ENST00000504290.5:p.Tyr88Ser
	ENST00000504937.5:c.263A>C	ENST00000504937.5:p.Tyr88Ser
	ENST00000510385.5:c.263A>C	ENST00000510385.5:p.Tyr88Ser
	ENST00000576024.2:c.659A>C	ENST00000576024.2:p.Tyr220Ser
	ENST00000604348.6:c.638A>C	ENST00000604348.6:p.Tyr213Ser
	ENST00000610292.4:c.542A>C	ENST00000610292.4:p.Tyr181Ser
	ENST00000610538.4:c.542A>C	ENST00000610538.4:p.Tyr181Ser
	ENST00000610623.4:c.182A>C	ENST00000610623.4:p.Tyr61Ser
	ENST00000618944.4:c.182A>C	ENST00000618944.4:p.Tyr61Ser
	ENST00000619186.4:c.182A>C	ENST00000619186.4:p.Tyr61Ser
	ENST00000619485.4:c.542A>C	ENST00000619485.4:p.Tyr181Ser
	ENST00000620739.4:c.542A>C	ENST00000620739.4:p.Tyr181Ser
	ENST00000622645.4:c.542A>C	ENST00000622645.4:p.Tyr181Ser
	ENST00000714356.1:c.542A>C	ENST00000714356.1:p.Tyr181Ser
	ENST00000714357.1:c.659A>C	ENST00000714357.1:p.Tyr220Ser
	ENST00000714359.1:c.659A>C	ENST00000714359.1:p.Tyr220Ser
	ENST00000714408.1:c.659A>C	ENST00000714408.1:p.Tyr220Ser
	ENST00000714409.1:c.659A>C	ENST00000714409.1:p.Tyr220Ser

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM3675522	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic	2017/08/10	Spindle cell sarcoma	somatic	MGS000017 (TMGS000052)	Kohei Miyazono	Tokyo University
Pathogenic		salivary gland neoplasms	somatic	MGS000044 (TMGS000097)	Kohei Miyazono	Tokyo University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-02-15	criteria provided, single submitter	Li-Fraumeni syndrome 1	unknown germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Papillary renal cell carcinoma type 1	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	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	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	Breast neoplasm	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	Malignant melanoma of skin	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	uterine carcinosarcoma	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	Papillary renal cell carcinoma, sporadic	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	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	gastric adenocarcinoma	somatic	Detail
Pathogenic	2022-03-19	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Pathogenic	2022-11-11	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	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
0.369	Li-Fraumeni syndrome	The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA f...	BeFree	15977174	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Papillary renal cell carcinoma type 1	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Prostate adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Small cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Malignant melanoma of skin	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Uterine carcinosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Papillary renal cell carcinoma, sporadic	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Glioblastoma	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients...	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: rs121912666 dbSNP
Genome: hg38
Position: chr17:7,674,872-7,674,872
Variant Type: snv
Reference Allele: T
Alternative Allele: G

Genome browser

chr17:7674872:T>G Detail (hg38) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript