chr17:7577526:A>G 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	chr17:7,577,526-7,577,526
hg38	chr17:7,674,208-7,674,208 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126113.2:c.755T>C	NP_001119585.1:p.Leu252Pro
	NM_001276695.1:c.755T>C	NP_001263624.1:p.Leu252Pro
	NM_001126116.1:c.359T>C	NP_001119588.1:p.Leu120Pro
	NM_001276698.1:c.359T>C	NP_001263627.1:p.Leu120Pro
	NM_000546.5:c.755T>C	NP_000537.3:p.Leu252Pro
	NM_001126112.2:c.755T>C	NP_001119584.1:p.Leu252Pro
	NM_001276760.1:c.755T>C	NP_001263689.1:p.Leu252Pro
	NM_001276761.1:c.755T>C	NP_001263690.1:p.Leu252Pro
	NM_001126115.1:c.278T>C	NP_001119587.1:p.Leu93Pro
	NM_001276697.1:c.278T>C	NP_001263626.1:p.Leu93Pro
	NM_001126118.1:c.638T>C	NP_001119590.1:p.Leu213Pro
	NM_001126117.1:c.278T>C	NP_001119589.1:p.Leu93Pro
	NM_001276699.1:c.278T>C	NP_001263628.1:p.Leu93Pro
	NM_001276696.1:c.638T>C	NP_001263625.1:p.Leu213Pro
Ensemble	ENST00000455263.6:c.755T>C	ENST00000455263.6:p.Leu252Pro
	ENST00000445888.6:c.755T>C	ENST00000445888.6:p.Leu252Pro
	ENST00000504290.5:c.359T>C	ENST00000504290.5:p.Leu120Pro
	ENST00000504937.5:c.359T>C	ENST00000504937.5:p.Leu120Pro
	ENST00000510385.5:c.359T>C	ENST00000510385.5:p.Leu120Pro
	ENST00000604348.6:c.734T>C	ENST00000604348.6:p.Leu245Pro
	ENST00000576024.2:c.755T>C	ENST00000576024.2:p.Leu252Pro
	ENST00000269305.9:c.755T>C	ENST00000269305.9:p.Leu252Pro
	ENST00000359597.8:c.755T>C	ENST00000359597.8:p.Leu252Pro
	ENST00000413465.6:c.755T>C	ENST00000413465.6:p.Leu252Pro
	ENST00000619186.4:c.278T>C	ENST00000619186.4:p.Leu93Pro
	ENST00000619485.4:c.638T>C	ENST00000619485.4:p.Leu213Pro
	ENST00000420246.6:c.755T>C	ENST00000420246.6:p.Leu252Pro
	ENST00000610292.4:c.638T>C	ENST00000610292.4:p.Leu213Pro
	ENST00000610538.4:c.638T>C	ENST00000610538.4:p.Leu213Pro
	ENST00000610623.4:c.278T>C	ENST00000610623.4:p.Leu93Pro
	ENST00000618944.4:c.278T>C	ENST00000618944.4:p.Leu93Pro
	ENST00000620739.4:c.638T>C	ENST00000620739.4:p.Leu213Pro
	ENST00000622645.4:c.638T>C	ENST00000622645.4:p.Leu213Pro
	ENST00000714356.1:c.638T>C	ENST00000714356.1:p.Leu213Pro
	ENST00000714357.1:c.755T>C	ENST00000714357.1:p.Leu252Pro
	ENST00000714359.1:c.755T>C	ENST00000714359.1:p.Leu252Pro
	ENST00000714408.1:c.755T>C	ENST00000714408.1:p.Leu252Pro
	ENST00000714409.1:c.755T>C	ENST00000714409.1:p.Leu252Pro

Summary

MGeND

Clinical significance	not provided
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM4735392	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Condition	Origin	Submission ID	Submitter	Institute
not provided	caecum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	caecum	not provided	MGS000042 (TMGS000093)	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

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2020-08-27	no assertion criteria provided	Li-Fraumeni syndrome 1	germline	Detail
Uncertain significance	2021-02-13	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Pathogenic	2021-11-03	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.441	Li-Fraumeni syndrome 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.755T>C (p.Leu252Pro) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.755T>C (p.Leu252Pro) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.755T>C (p.Leu252Pro) AND not provided	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: rs121912653 dbSNP
Genome: hg19
Position: chr17:7,577,526-7,577,526
Variant Type: snv
Reference Allele: A
Alternative Allele: G

Genome browser

chr17:7577526:A>G Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript