chr17:7673767:C>T Detail (hg38) (TP53)

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

Genome

Assembly	Position
hg19	chr17:7,577,085-7,577,085 View the variant detail on this assembly version.
hg38	chr17:7,673,767-7,673,767

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126115.1:c.376G>A	NP_001119587.1:p.Glu126Lys
	NM_001276697.1:c.376G>A	NP_001263626.1:p.Glu126Lys
	NM_000546.5:c.853G>A	NP_000537.3:p.Glu285Lys
	NM_001126112.2:c.853G>A	NP_001119584.1:p.Glu285Lys
	NM_001276760.1:c.853G>A	NP_001263689.1:p.Glu285Lys
	NM_001276761.1:c.853G>A	NP_001263690.1:p.Glu285Lys
	NM_001126113.2:c.853G>A	NP_001119585.1:p.Glu285Lys
	NM_001276695.1:c.853G>A	NP_001263624.1:p.Glu285Lys
	NM_001126116.1:c.457G>A	NP_001119588.1:p.Glu153Lys
	NM_001276698.1:c.457G>A	NP_001263627.1:p.Glu153Lys
	NM_001126118.1:c.736G>A	NP_001119590.1:p.Glu246Lys
	NM_001126117.1:c.376G>A	NP_001119589.1:p.Glu126Lys
	NM_001276699.1:c.376G>A	NP_001263628.1:p.Glu126Lys
	NM_001276696.1:c.736G>A	NP_001263625.1:p.Glu246Lys
Ensemble	ENST00000618944.4:c.376G>A	ENST00000618944.4:p.Glu126Lys
	ENST00000619186.4:c.376G>A	ENST00000619186.4:p.Glu126Lys
	ENST00000269305.9:c.853G>A	ENST00000269305.9:p.Glu285Lys
	ENST00000359597.8:c.853G>A	ENST00000359597.8:p.Glu285Lys
	ENST00000413465.6:c.782+414G>A
	ENST00000420246.6:c.853G>A	ENST00000420246.6:p.Glu285Lys
	ENST00000445888.6:c.853G>A	ENST00000445888.6:p.Glu285Lys
	ENST00000455263.6:c.853G>A	ENST00000455263.6:p.Glu285Lys
	ENST00000504290.5:c.457G>A	ENST00000504290.5:p.Glu153Lys
	ENST00000504937.5:c.457G>A	ENST00000504937.5:p.Glu153Lys
	ENST00000510385.5:c.457G>A	ENST00000510385.5:p.Glu153Lys
	ENST00000576024.2:c.853G>A	ENST00000576024.2:p.Glu285Lys
	ENST00000604348.6:c.832G>A	ENST00000604348.6:p.Glu278Lys
	ENST00000610292.4:c.736G>A	ENST00000610292.4:p.Glu246Lys
	ENST00000610538.4:c.736G>A	ENST00000610538.4:p.Glu246Lys
	ENST00000610623.4:c.376G>A	ENST00000610623.4:p.Glu126Lys
	ENST00000619485.4:c.736G>A	ENST00000619485.4:p.Glu246Lys
	ENST00000620739.4:c.736G>A	ENST00000620739.4:p.Glu246Lys
	ENST00000622645.4:c.736G>A	ENST00000622645.4:p.Glu246Lys
	ENST00000714356.1:c.736G>A	ENST00000714356.1:p.Glu246Lys
	ENST00000714357.1:c.853G>A	ENST00000714357.1:p.Glu285Lys
	ENST00000714359.1:c.853G>A	ENST00000714359.1:p.Glu285Lys
	ENST00000714408.1:c.853G>A	ENST00000714408.1:p.Glu285Lys
	ENST00000714409.1:c.853G>A	ENST00000714409.1:p.Glu285Lys

Summary

MGeND

Clinical significance
Variant entry
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	COSM3717625	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2021-11-03	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic Likely pathogenic	2022-06-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
drug response	2017-11-27	no assertion criteria provided		somatic	Detail
Pathogenic	2022-10-13	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2022-06-18	criteria provided, single submitter	Li-Fraumeni syndrome 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.002	severe combined immunodeficiency	Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)a...	BeFree	24077944	Detail
<0.001	severe combined immunodeficiency	Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)a...	BeFree	24077944	Detail
0.121	Adenocarcinoma Of Esophagus	Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)a...	BeFree	24077944	Detail
0.132	Adenocarcinoma Of Esophagus	Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)a...	BeFree	24077944	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) AND Poly (ADP-Ribose) polymerase inhibitor response	ClinVar	Detail
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) AND Li-Fraumeni syndrome 1	ClinVar	Detail
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c...	DisGeNET	Detail
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c...	DisGeNET	Detail
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c...	DisGeNET	Detail
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (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: rs112431538 dbSNP
Genome: hg38
Position: chr17:7,673,767-7,673,767
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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