chr17:7577509:C>T 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	chr17:7,577,509-7,577,509
hg38	chr17:7,674,191-7,674,191 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126113.2:c.772G>A	NP_001119585.1:p.Glu258Lys
	NM_001276695.1:c.772G>A	NP_001263624.1:p.Glu258Lys
	NM_001126116.1:c.376G>A	NP_001119588.1:p.Glu126Lys
	NM_001276698.1:c.376G>A	NP_001263627.1:p.Glu126Lys
	NM_000546.5:c.772G>A	NP_000537.3:p.Glu258Lys
	NM_001126112.2:c.772G>A	NP_001119584.1:p.Glu258Lys
	NM_001276760.1:c.772G>A	NP_001263689.1:p.Glu258Lys
	NM_001276761.1:c.772G>A	NP_001263690.1:p.Glu258Lys
	NM_001126118.1:c.655G>A	NP_001119590.1:p.Glu219Lys
	NM_001126117.1:c.295G>A	NP_001119589.1:p.Glu99Lys
	NM_001276699.1:c.295G>A	NP_001263628.1:p.Glu99Lys
	NM_001126115.1:c.295G>A	NP_001119587.1:p.Glu99Lys
	NM_001276697.1:c.295G>A	NP_001263626.1:p.Glu99Lys
	NM_001276696.1:c.655G>A	NP_001263625.1:p.Glu219Lys
Ensemble	ENST00000576024.2:c.772G>A	ENST00000576024.2:p.Glu258Lys
	ENST00000420246.6:c.772G>A	ENST00000420246.6:p.Glu258Lys
	ENST00000455263.6:c.772G>A	ENST00000455263.6:p.Glu258Lys
	ENST00000510385.5:c.376G>A	ENST00000510385.5:p.Glu126Lys
	ENST00000504937.5:c.376G>A	ENST00000504937.5:p.Glu126Lys
	ENST00000413465.6:c.772G>A	ENST00000413465.6:p.Glu258Lys
	ENST00000269305.9:c.772G>A	ENST00000269305.9:p.Glu258Lys
	ENST00000359597.8:c.772G>A	ENST00000359597.8:p.Glu258Lys
	ENST00000504290.5:c.376G>A	ENST00000504290.5:p.Glu126Lys
	ENST00000445888.6:c.772G>A	ENST00000445888.6:p.Glu258Lys
	ENST00000604348.6:c.751G>A	ENST00000604348.6:p.Glu251Lys
	ENST00000610292.4:c.655G>A	ENST00000610292.4:p.Glu219Lys
	ENST00000610538.4:c.655G>A	ENST00000610538.4:p.Glu219Lys
	ENST00000610623.4:c.295G>A	ENST00000610623.4:p.Glu99Lys
	ENST00000618944.4:c.295G>A	ENST00000618944.4:p.Glu99Lys
	ENST00000619186.4:c.295G>A	ENST00000619186.4:p.Glu99Lys
	ENST00000619485.4:c.655G>A	ENST00000619485.4:p.Glu219Lys
	ENST00000620739.4:c.655G>A	ENST00000620739.4:p.Glu219Lys
	ENST00000622645.4:c.655G>A	ENST00000622645.4:p.Glu219Lys
	ENST00000714356.1:c.655G>A	ENST00000714356.1:p.Glu219Lys
	ENST00000714357.1:c.772G>A	ENST00000714357.1:p.Glu258Lys
	ENST00000714359.1:c.772G>A	ENST00000714359.1:p.Glu258Lys
	ENST00000714408.1:c.772G>A	ENST00000714408.1:p.Glu258Lys
	ENST00000714409.1:c.772G>A	ENST00000714409.1:p.Glu258Lys

Summary

MGeND

Clinical significance	Pathogenic not provided
Variant entry	18
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	COSM10988	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute
Pathogenic	2020/04/20	transverse colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	2018/05/15	stomach neoplasms	somatic	MGS000017 (TMGS000034)	Kohei Miyazono	Tokyo University
Pathogenic	2021/03/19	Colorectal	germline	MGS000050 (TMGS000114)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo
Pathogenic	2020/04/20	pyloric antrum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	transverse colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	extrahepatic bile duct	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2022-06-18	criteria provided, single submitter	Li-Fraumeni syndrome 1	germline	Detail
Pathogenic	2021-11-30	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Uncertain significance		no assertion criteria provided	not specified	unknown	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	2023-10-13	criteria provided, single submitter	Li-Fraumeni 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

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND not specified	ClinVar	Detail
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND Li-Fraumeni syndrome	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: rs121912652 dbSNP
Genome: hg19
Position: chr17:7,577,509-7,577,509
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8652
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): 121234
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): 8.248511143738554E-6

Genome browser

chr17:7577509:C>T Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Clinical information of patient(s) with this variant provided by the submitter(s)

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript