chr17:7676074:AAGG> 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	chr17:7,579,392-7,579,395
hg38	chr17:7,676,074-7,676,077

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126113.2:c.292_295delCCTT	NP_001119585.1:p.Ser99ArgfsTer23
	NM_001276695.1:c.292_295delCCTT	NP_001263624.1:p.Ser99ArgfsTer23
	NM_001126118.1:c.175_178delCCTT	NP_001119590.1:p.Ser60ArgfsTer23
	NM_000546.5:c.292_295delCCTT	NP_000537.3:p.Ser99ArgfsTer23
	NM_001126112.2:c.292_295delCCTT	NP_001119584.1:p.Ser99ArgfsTer23
	NM_001276760.1:c.292_295delCCTT	NP_001263689.1:p.Ser99ArgfsTer23
	NM_001276761.1:c.292_295delCCTT	NP_001263690.1:p.Ser99ArgfsTer23
	NM_001276696.1:c.175_178delCCTT	NP_001263625.1:p.Ser60ArgfsTer23
Ensemble	ENST00000455263.6:c.292_295delCCTT	ENST00000455263.6:p.Ser99ArgfsTer23
	ENST00000576024.2:c.292_295delCCTT	ENST00000576024.2:p.Ser99ArgfsTer23
	ENST00000604348.6:c.292_295delCCTT	ENST00000604348.6:p.Ser99ArgfsTer23
	ENST00000610292.4:c.175_178delCCTT	ENST00000610292.4:p.Ser60ArgfsTer23
	ENST00000269305.9:c.292_295delCCTT	ENST00000269305.9:p.Ser99ArgfsTer23
	ENST00000359597.8:c.292_295delCCTT	ENST00000359597.8:p.Ser99ArgfsTer23
	ENST00000413465.6:c.292_295delCCTT	ENST00000413465.6:p.Ser99ArgfsTer23
	ENST00000420246.6:c.292_295delCCTT	ENST00000420246.6:p.Ser99ArgfsTer23
	ENST00000445888.6:c.292_295delCCTT	ENST00000445888.6:p.Ser99ArgfsTer23
	ENST00000610538.4:c.175_178delCCTT	ENST00000610538.4:p.Ser60ArgfsTer23
	ENST00000619485.4:c.175_178delCCTT	ENST00000619485.4:p.Ser60ArgfsTer23
	ENST00000620739.4:c.175_178delCCTT	ENST00000620739.4:p.Ser60ArgfsTer23
	ENST00000622645.4:c.175_178delCCTT	ENST00000622645.4:p.Ser60ArgfsTer23
	ENST00000714356.1:c.175_178delCCTT	ENST00000714356.1:p.Ser60ArgfsTer23
	ENST00000714357.1:c.292_295delCCTT	ENST00000714357.1:p.Ser99ArgfsTer23
	ENST00000714359.1:c.292_295delCCTT	ENST00000714359.1:p.Ser99ArgfsTer23
	ENST00000714408.1:c.292_295delCCTT	ENST00000714408.1:p.Ser99ArgfsTer23
	ENST00000714409.1:c.292_295delCCTT	ENST00000714409.1:p.Ser99ArgfsTer23

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	COSM1166927	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	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.294_297del (p.Ser99fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.294_297del (p.Ser99fs) 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: rs730882015 dbSNP
Genome: hg38
Position: chr17:7,676,074-7,676,077
Variant Type: snv
Reference Allele: AAGG
Alternative Allele: -

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