chr17:7577545: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	chr17:7,577,545-7,577,545
hg38	chr17:7,674,227-7,674,227 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126113.2:c.736A>G	NP_001119585.1:p.Met246Val
	NM_001276695.1:c.736A>G	NP_001263624.1:p.Met246Val
	NM_001126116.1:c.340A>G	NP_001119588.1:p.Met114Val
	NM_001276698.1:c.340A>G	NP_001263627.1:p.Met114Val
	NM_000546.5:c.736A>G	NP_000537.3:p.Met246Val
	NM_001126112.2:c.736A>G	NP_001119584.1:p.Met246Val
	NM_001276760.1:c.736A>G	NP_001263689.1:p.Met246Val
	NM_001276761.1:c.736A>G	NP_001263690.1:p.Met246Val
	NM_001126118.1:c.619A>G	NP_001119590.1:p.Met207Val
	NM_001126117.1:c.259A>G	NP_001119589.1:p.Met87Val
	NM_001276699.1:c.259A>G	NP_001263628.1:p.Met87Val
	NM_001126115.1:c.259A>G	NP_001119587.1:p.Met87Val
	NM_001276697.1:c.259A>G	NP_001263626.1:p.Met87Val
	NM_001276696.1:c.619A>G	NP_001263625.1:p.Met207Val
Ensemble	ENST00000455263.6:c.736A>G	ENST00000455263.6:p.Met246Val
	ENST00000604348.6:c.715A>G	ENST00000604348.6:p.Met239Val
	ENST00000504937.5:c.340A>G	ENST00000504937.5:p.Met114Val
	ENST00000510385.5:c.340A>G	ENST00000510385.5:p.Met114Val
	ENST00000576024.2:c.736A>G	ENST00000576024.2:p.Met246Val
	ENST00000504290.5:c.340A>G	ENST00000504290.5:p.Met114Val
	ENST00000445888.6:c.736A>G	ENST00000445888.6:p.Met246Val
	ENST00000269305.9:c.736A>G	ENST00000269305.9:p.Met246Val
	ENST00000359597.8:c.736A>G	ENST00000359597.8:p.Met246Val
	ENST00000413465.6:c.736A>G	ENST00000413465.6:p.Met246Val
	ENST00000420246.6:c.736A>G	ENST00000420246.6:p.Met246Val
	ENST00000610292.4:c.619A>G	ENST00000610292.4:p.Met207Val
	ENST00000610538.4:c.619A>G	ENST00000610538.4:p.Met207Val
	ENST00000610623.4:c.259A>G	ENST00000610623.4:p.Met87Val
	ENST00000618944.4:c.259A>G	ENST00000618944.4:p.Met87Val
	ENST00000619186.4:c.259A>G	ENST00000619186.4:p.Met87Val
	ENST00000619485.4:c.619A>G	ENST00000619485.4:p.Met207Val
	ENST00000620739.4:c.619A>G	ENST00000620739.4:p.Met207Val
	ENST00000622645.4:c.619A>G	ENST00000622645.4:p.Met207Val
	ENST00000714356.1:c.619A>G	ENST00000714356.1:p.Met207Val
	ENST00000714357.1:c.736A>G	ENST00000714357.1:p.Met246Val
	ENST00000714359.1:c.736A>G	ENST00000714359.1:p.Met246Val
	ENST00000714408.1:c.736A>G	ENST00000714408.1:p.Met246Val
	ENST00000714409.1:c.736A>G	ENST00000714409.1:p.Met246Val

Summary

MGeND

Clinical significance	not provided other
Variant entry	15
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	COSM3958808	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	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		Myelodysplastic syndromes	somatic	MGS000005 (TMGS000006)	Keizo Horibe	National Hospital Organization Nagoya Medical Center
not provided	2018/05/15	stomach neoplasms	somatic	MGS000017 (TMGS000034)	Kohei Miyazono	Tokyo University
other		Squamous cell carcinoma of esophagus (disorder)	unknown	MGS000021 (TMGS000080)	Manabu Muto	Kyoto University
not provided		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		malignant neoplasm of rectum	not provided	MGS000041 (TMGS000094)	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	2021-07-30	criteria provided, single submitter	not provided	somatic unknown	Detail
Pathogenic	2022-06-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-12-18	criteria provided, single submitter	Li-Fraumeni 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

[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.736A>G (p.Met246Val) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.736A>G (p.Met246Val) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.736A>G (p.Met246Val) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.736A>G (p.Met246Val) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.736A>G (p.Met246Val) 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: rs483352695 dbSNP
Genome: hg19
Position: chr17:7,577,545-7,577,545
Variant Type: snv
Reference Allele: T
Alternative Allele: C

Genome browser

chr17:7577545:T>C Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript