chr17:7577084:T>A 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	chr17:7,577,084-7,577,084
hg38	chr17:7,673,766-7,673,766 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126117.1:c.377A>T	NP_001119589.1:p.Glu126Val
	NM_001276699.1:c.377A>T	NP_001263628.1:p.Glu126Val
	NM_001126115.1:c.377A>T	NP_001119587.1:p.Glu126Val
	NM_001276697.1:c.377A>T	NP_001263626.1:p.Glu126Val
	NM_001126113.2:c.854A>T	NP_001119585.1:p.Glu285Val
	NM_001276695.1:c.854A>T	NP_001263624.1:p.Glu285Val
	NM_001126116.1:c.458A>T	NP_001119588.1:p.Glu153Val
	NM_001276698.1:c.458A>T	NP_001263627.1:p.Glu153Val
	NM_000546.5:c.854A>T	NP_000537.3:p.Glu285Val
	NM_001126112.2:c.854A>T	NP_001119584.1:p.Glu285Val
	NM_001276760.1:c.854A>T	NP_001263689.1:p.Glu285Val
	NM_001276761.1:c.854A>T	NP_001263690.1:p.Glu285Val
	NM_001126118.1:c.737A>T	NP_001119590.1:p.Glu246Val
	NM_001276696.1:c.737A>T	NP_001263625.1:p.Glu246Val
Ensemble	ENST00000445888.6:c.854A>T	ENST00000445888.6:p.Glu285Val
	ENST00000618944.4:c.377A>T	ENST00000618944.4:p.Glu126Val
	ENST00000576024.2:c.854A>T	ENST00000576024.2:p.Glu285Val
	ENST00000610623.4:c.377A>T	ENST00000610623.4:p.Glu126Val
	ENST00000714408.1:c.854A>T	ENST00000714408.1:p.Glu285Val
	ENST00000619186.4:c.377A>T	ENST00000619186.4:p.Glu126Val
	ENST00000504937.5:c.458A>T	ENST00000504937.5:p.Glu153Val
	ENST00000620739.4:c.737A>T	ENST00000620739.4:p.Glu246Val
	ENST00000619485.4:c.737A>T	ENST00000619485.4:p.Glu246Val
	ENST00000455263.6:c.854A>T	ENST00000455263.6:p.Glu285Val
	ENST00000714359.1:c.854A>T	ENST00000714359.1:p.Glu285Val
	ENST00000413465.6:c.782+415A>T
	ENST00000714356.1:c.737A>T	ENST00000714356.1:p.Glu246Val
	ENST00000604348.6:c.833A>T	ENST00000604348.6:p.Glu278Val
	ENST00000359597.8:c.854A>T	ENST00000359597.8:p.Glu285Val
	ENST00000714409.1:c.854A>T	ENST00000714409.1:p.Glu285Val
	ENST00000420246.6:c.854A>T	ENST00000420246.6:p.Glu285Val
	ENST00000610538.4:c.737A>T	ENST00000610538.4:p.Glu246Val
	ENST00000510385.5:c.458A>T	ENST00000510385.5:p.Glu153Val
	ENST00000714357.1:c.854A>T	ENST00000714357.1:p.Glu285Val
	ENST00000269305.9:c.854A>T	ENST00000269305.9:p.Glu285Val
	ENST00000504290.5:c.458A>T	ENST00000504290.5:p.Glu153Val
	ENST00000610292.4:c.737A>T	ENST00000610292.4:p.Glu246Val
	ENST00000622645.4:c.737A>T	ENST00000622645.4:p.Glu246Val

Summary

MGeND

Clinical significance
Variant entry
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
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	COSM3958796	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2008-09-01	no assertion criteria provided	Adrenocortical carcinoma, pediatric	germline	Detail
Pathogenic	2008-09-01	no assertion criteria provided	choroid plexus carcinoma	germline	Detail
Pathogenic	2018-12-21	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Adrenocortical carcinoma, pediatric	NA	CLINVAR		Detail
0.124	choroid plexus carcinoma	NA	CLINVAR		Detail
0.124	choroid plexus carcinoma	Identification of a novel TP53 germline mutation E285V in a rare case of paediat...	BeFree	18762572	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.854A>T (p.Glu285Val) AND Adrenocortical carcinoma, pediatric	ClinVar	Detail
NM_000546.6(TP53):c.854A>T (p.Glu285Val) AND Choroid plexus carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.854A>T (p.Glu285Val) AND Li-Fraumeni syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical c...	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: rs121912667 dbSNP
Genome: hg19
Position: chr17:7,577,084-7,577,084
Variant Type: snv
Reference Allele: T
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8634
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): 121024
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): 8.262823902696986E-6

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