chr17:7674179:A>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	chr17:7,577,497-7,577,497 View the variant detail on this assembly version.
hg38	chr17:7,674,179-7,674,179

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.782+2T>A
	NM_001126112.2:c.782+2T>A
	NM_001276760.1:c.782+2T>A
	NM_001276761.1:c.782+2T>A
	NM_001126113.2:c.782+2T>A
	NM_001276695.1:c.782+2T>A
	NM_001126116.1:c.386+2T>A
	NM_001276698.1:c.386+2T>A
	NM_001126118.1:c.665+2T>A
	NM_001126117.1:c.305+2T>A
	NM_001276699.1:c.305+2T>A
	NM_001126115.1:c.305+2T>A
	NM_001276697.1:c.305+2T>A
	NM_001276696.1:c.665+2T>A
Ensemble	ENST00000269305.9:c.782+2T>A
	ENST00000359597.8:c.782+2T>A
	ENST00000413465.6:c.782+2T>A
	ENST00000420246.6:c.782+2T>A
	ENST00000445888.6:c.782+2T>A
	ENST00000455263.6:c.782+2T>A
	ENST00000504290.5:c.386+2T>A
	ENST00000504937.5:c.386+2T>A
	ENST00000510385.5:c.386+2T>A
	ENST00000576024.2:c.782+2T>A
	ENST00000604348.6:c.761+2T>A
	ENST00000610292.4:c.665+2T>A
	ENST00000610538.4:c.665+2T>A
	ENST00000610623.4:c.305+2T>A
	ENST00000618944.4:c.305+2T>A
	ENST00000619186.4:c.305+2T>A
	ENST00000619485.4:c.665+2T>A
	ENST00000620739.4:c.665+2T>A
	ENST00000622645.4:c.665+2T>A
	ENST00000714356.1:c.665+2T>A
	ENST00000714357.1:c.782+2T>A
	ENST00000714359.1:c.782+2T>A
	ENST00000714408.1:c.782+2T>A
	ENST00000714409.1:c.782+2T>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
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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	COSM4432180	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2023-02-08	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.782+2T>A AND Hereditary cancer-predisposing syndrome	ClinVar	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr17:7,674,179-7,674,179
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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