chr17:7674865:CGGCTCATAGGGCACC> Detail (hg38) (TP53)

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

Information

Genome

Assembly	Position
hg19	chr17:7,578,183-7,578,198
hg38	chr17:7,674,865-7,674,880

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.651_666delGGTGCCCTATGAGCCG	NP_000537.3:p.Val218LeufsTer24
	NM_001126112.2:c.651_666delGGTGCCCTATGAGCCG	NP_001119584.1:p.Val218LeufsTer24
	NM_001276760.1:c.651_666delGGTGCCCTATGAGCCG	NP_001263689.1:p.Val218LeufsTer24
	NM_001276761.1:c.651_666delGGTGCCCTATGAGCCG	NP_001263690.1:p.Val218LeufsTer24
	NM_001126113.2:c.651_666delGGTGCCCTATGAGCCG	NP_001119585.1:p.Val218LeufsTer24
	NM_001276695.1:c.651_666delGGTGCCCTATGAGCCG	NP_001263624.1:p.Val218LeufsTer24
	NM_001126116.1:c.255_270delGGTGCCCTATGAGCCG	NP_001119588.1:p.Val86LeufsTer24
	NM_001276698.1:c.255_270delGGTGCCCTATGAGCCG	NP_001263627.1:p.Val86LeufsTer24
	NM_001126118.1:c.534_549delGGTGCCCTATGAGCCG	NP_001119590.1:p.Val179LeufsTer24
	NM_001126117.1:c.174_189delGGTGCCCTATGAGCCG	NP_001119589.1:p.Val59LeufsTer24
	NM_001276699.1:c.174_189delGGTGCCCTATGAGCCG	NP_001263628.1:p.Val59LeufsTer24
	NM_001126115.1:c.174_189delGGTGCCCTATGAGCCG	NP_001119587.1:p.Val59LeufsTer24
	NM_001276697.1:c.174_189delGGTGCCCTATGAGCCG	NP_001263626.1:p.Val59LeufsTer24
	NM_001276696.1:c.534_549delGGTGCCCTATGAGCCG	NP_001263625.1:p.Val179LeufsTer24
Ensemble	ENST00000269305.9:c.651_666delGGTGCCCTATGAGCCG	ENST00000269305.9:p.Val218LeufsTer24
	ENST00000359597.8:c.651_666delGGTGCCCTATGAGCCG	ENST00000359597.8:p.Val218LeufsTer24
	ENST00000413465.6:c.651_666delGGTGCCCTATGAGCCG	ENST00000413465.6:p.Val218LeufsTer24
	ENST00000420246.6:c.651_666delGGTGCCCTATGAGCCG	ENST00000420246.6:p.Val218LeufsTer24
	ENST00000445888.6:c.651_666delGGTGCCCTATGAGCCG	ENST00000445888.6:p.Val218LeufsTer24
	ENST00000455263.6:c.651_666delGGTGCCCTATGAGCCG	ENST00000455263.6:p.Val218LeufsTer24
	ENST00000504290.5:c.255_270delGGTGCCCTATGAGCCG	ENST00000504290.5:p.Val86LeufsTer24
	ENST00000504937.5:c.255_270delGGTGCCCTATGAGCCG	ENST00000504937.5:p.Val86LeufsTer24
	ENST00000510385.5:c.255_270delGGTGCCCTATGAGCCG	ENST00000510385.5:p.Val86LeufsTer24
	ENST00000576024.2:c.651_666delGGTGCCCTATGAGCCG	ENST00000576024.2:p.Val218LeufsTer24
	ENST00000604348.6:c.630_645delGGTGCCCTATGAGCCG	ENST00000604348.6:p.Val211LeufsTer24
	ENST00000610292.4:c.534_549delGGTGCCCTATGAGCCG	ENST00000610292.4:p.Val179LeufsTer24
	ENST00000610538.4:c.534_549delGGTGCCCTATGAGCCG	ENST00000610538.4:p.Val179LeufsTer24
	ENST00000610623.4:c.174_189delGGTGCCCTATGAGCCG	ENST00000610623.4:p.Val59LeufsTer24
	ENST00000618944.4:c.174_189delGGTGCCCTATGAGCCG	ENST00000618944.4:p.Val59LeufsTer24
	ENST00000619186.4:c.174_189delGGTGCCCTATGAGCCG	ENST00000619186.4:p.Val59LeufsTer24
	ENST00000619485.4:c.534_549delGGTGCCCTATGAGCCG	ENST00000619485.4:p.Val179LeufsTer24
	ENST00000620739.4:c.534_549delGGTGCCCTATGAGCCG	ENST00000620739.4:p.Val179LeufsTer24
	ENST00000622645.4:c.534_549delGGTGCCCTATGAGCCG	ENST00000622645.4:p.Val179LeufsTer24
	ENST00000714356.1:c.534_549delGGTGCCCTATGAGCCG	ENST00000714356.1:p.Val179LeufsTer24
	ENST00000714357.1:c.651_666delGGTGCCCTATGAGCCG	ENST00000714357.1:p.Val218LeufsTer24
	ENST00000714359.1:c.651_666delGGTGCCCTATGAGCCG	ENST00000714359.1:p.Val218LeufsTer24
	ENST00000714408.1:c.651_666delGGTGCCCTATGAGCCG	ENST00000714408.1:p.Val218LeufsTer24
	ENST00000714409.1:c.651_666delGGTGCCCTATGAGCCG	ENST00000714409.1:p.Val218LeufsTer24

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-06-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2020-03-29	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
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
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.651_666del (p.Val218fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.651_666del (p.Val218fs) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.651_666del (p.Val218fs) AND Li-Fraumeni syndrome 1	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: rs786202315 dbSNP
Genome: hg38
Position: chr17:7,674,865-7,674,880
Variant Type: snv
Reference Allele: CGGCTCATAGGGCACC
Alternative Allele: -

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