chr17:7673745:T>A 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	chr17:7,577,063-7,577,063 View the variant detail on this assembly version.
hg38	chr17:7,673,745-7,673,745

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.875A>T	NP_000537.3:p.Lys292Ile
	NM_001126112.2:c.875A>T	NP_001119584.1:p.Lys292Ile
	NM_001276760.1:c.875A>T	NP_001263689.1:p.Lys292Ile
	NM_001276761.1:c.875A>T	NP_001263690.1:p.Lys292Ile
	NM_001126113.2:c.875A>T	NP_001119585.1:p.Lys292Ile
	NM_001276695.1:c.875A>T	NP_001263624.1:p.Lys292Ile
	NM_001126116.1:c.479A>T	NP_001119588.1:p.Lys160Ile
	NM_001276698.1:c.479A>T	NP_001263627.1:p.Lys160Ile
	NM_001126118.1:c.758A>T	NP_001119590.1:p.Lys253Ile
	NM_001126117.1:c.398A>T	NP_001119589.1:p.Lys133Ile
	NM_001276699.1:c.398A>T	NP_001263628.1:p.Lys133Ile
	NM_001126115.1:c.398A>T	NP_001119587.1:p.Lys133Ile
	NM_001276697.1:c.398A>T	NP_001263626.1:p.Lys133Ile
	NM_001276696.1:c.758A>T	NP_001263625.1:p.Lys253Ile
Ensemble	ENST00000269305.9:c.875A>T	ENST00000269305.9:p.Lys292Ile
	ENST00000359597.8:c.875A>T	ENST00000359597.8:p.Lys292Ile
	ENST00000413465.6:c.782+436A>T
	ENST00000420246.6:c.875A>T	ENST00000420246.6:p.Lys292Ile
	ENST00000445888.6:c.875A>T	ENST00000445888.6:p.Lys292Ile
	ENST00000455263.6:c.875A>T	ENST00000455263.6:p.Lys292Ile
	ENST00000504290.5:c.479A>T	ENST00000504290.5:p.Lys160Ile
	ENST00000504937.5:c.479A>T	ENST00000504937.5:p.Lys160Ile
	ENST00000510385.5:c.479A>T	ENST00000510385.5:p.Lys160Ile
	ENST00000576024.2:c.875A>T	ENST00000576024.2:p.Lys292Ile
	ENST00000604348.6:c.854A>T	ENST00000604348.6:p.Lys285Ile
	ENST00000610292.4:c.758A>T	ENST00000610292.4:p.Lys253Ile
	ENST00000610538.4:c.758A>T	ENST00000610538.4:p.Lys253Ile
	ENST00000610623.4:c.398A>T	ENST00000610623.4:p.Lys133Ile
	ENST00000618944.4:c.398A>T	ENST00000618944.4:p.Lys133Ile
	ENST00000619186.4:c.398A>T	ENST00000619186.4:p.Lys133Ile
	ENST00000619485.4:c.758A>T	ENST00000619485.4:p.Lys253Ile
	ENST00000620739.4:c.758A>T	ENST00000620739.4:p.Lys253Ile
	ENST00000622645.4:c.758A>T	ENST00000622645.4:p.Lys253Ile
	ENST00000714356.1:c.758A>T	ENST00000714356.1:p.Lys253Ile
	ENST00000714357.1:c.875A>T	ENST00000714357.1:p.Lys292Ile
	ENST00000714359.1:c.875A>T	ENST00000714359.1:p.Lys292Ile
	ENST00000714408.1:c.875A>T	ENST00000714408.1:p.Lys292Ile
	ENST00000714409.1:c.875A>T	ENST00000714409.1:p.Lys292Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1999-09-01	no assertion criteria provided	Li-Fraumeni syndrome 1	germline	Detail
Uncertain significance	2021-01-05	criteria provided, multiple submitters, no conflicts	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
0.369	Li-Fraumeni syndrome	Three families (4.4%) had a diagnosis of Li-Fraumeni syndrome and germline mutat...	BeFree	15993273	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.875A>T (p.Lys292Ile) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.875A>T (p.Lys292Ile) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NA	DisGeNET	Detail
Three families (4.4%) had a diagnosis of Li-Fraumeni syndrome and germline mutations in TP53 (Lys292...	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: rs121912663 dbSNP
Genome: hg38
Position: chr17:7,673,745-7,673,745
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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