chr17:7577021:C>T Detail (hg19) (TP53)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:7,577,021-7,577,021
hg38	chr17:7,673,703-7,673,703 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126116.1:c.521G>A	NP_001119588.1:p.Arg174Gln
	NM_001276698.1:c.521G>A	NP_001263627.1:p.Arg174Gln
	NM_000546.5:c.917G>A	NP_000537.3:p.Arg306Gln
	NM_001126112.2:c.917G>A	NP_001119584.1:p.Arg306Gln
	NM_001276760.1:c.917G>A	NP_001263689.1:p.Arg306Gln
	NM_001276761.1:c.917G>A	NP_001263690.1:p.Arg306Gln
	NM_001126113.2:c.917G>A	NP_001119585.1:p.Arg306Gln
	NM_001276695.1:c.917G>A	NP_001263624.1:p.Arg306Gln
	NM_001126118.1:c.800G>A	NP_001119590.1:p.Arg267Gln
	NM_001126117.1:c.440G>A	NP_001119589.1:p.Arg147Gln
	NM_001276699.1:c.440G>A	NP_001263628.1:p.Arg147Gln
	NM_001126115.1:c.440G>A	NP_001119587.1:p.Arg147Gln
	NM_001276697.1:c.440G>A	NP_001263626.1:p.Arg147Gln
	NM_001276696.1:c.800G>A	NP_001263625.1:p.Arg267Gln
Ensemble	ENST00000576024.2:c.917G>A	ENST00000576024.2:p.Arg306Gln
	ENST00000504937.5:c.521G>A	ENST00000504937.5:p.Arg174Gln
	ENST00000510385.5:c.521G>A	ENST00000510385.5:p.Arg174Gln
	ENST00000604348.6:c.896G>A	ENST00000604348.6:p.Arg299Gln
	ENST00000714359.1:c.917G>A	ENST00000714359.1:p.Arg306Gln
	ENST00000714408.1:c.917G>A	ENST00000714408.1:p.Arg306Gln
	ENST00000714409.1:c.917G>A	ENST00000714409.1:p.Arg306Gln
	ENST00000269305.9:c.917G>A	ENST00000269305.9:p.Arg306Gln
	ENST00000359597.8:c.917G>A	ENST00000359597.8:p.Arg306Gln
	ENST00000413465.6:c.782+478G>A
	ENST00000420246.6:c.917G>A	ENST00000420246.6:p.Arg306Gln
	ENST00000445888.6:c.917G>A	ENST00000445888.6:p.Arg306Gln
	ENST00000455263.6:c.917G>A	ENST00000455263.6:p.Arg306Gln
	ENST00000504290.5:c.521G>A	ENST00000504290.5:p.Arg174Gln
	ENST00000714356.1:c.800G>A	ENST00000714356.1:p.Arg267Gln
	ENST00000610292.4:c.800G>A	ENST00000610292.4:p.Arg267Gln
	ENST00000610538.4:c.800G>A	ENST00000610538.4:p.Arg267Gln
	ENST00000610623.4:c.440G>A	ENST00000610623.4:p.Arg147Gln
	ENST00000618944.4:c.440G>A	ENST00000618944.4:p.Arg147Gln
	ENST00000619186.4:c.440G>A	ENST00000619186.4:p.Arg147Gln
	ENST00000619485.4:c.800G>A	ENST00000619485.4:p.Arg267Gln
	ENST00000620739.4:c.800G>A	ENST00000620739.4:p.Arg267Gln
	ENST00000622645.4:c.800G>A	ENST00000622645.4:p.Arg267Gln
	ENST00000714357.1:c.917G>A	ENST00000714357.1:p.Arg306Gln

Summary

MGeND

Clinical significance	Uncertain significance
Variant entry	1
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	COSM6982168	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Uncertain significance	2021/03/19	Colorectal	germline	MGS000050 (TMGS000114)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2023-12-08	criteria provided, conflicting interpretations	Li-Fraumeni syndrome	germline	Detail
Uncertain significance	2021-07-23	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2017-06-13	criteria provided, single submitter	Familial cancer of breast	germline	Detail
Uncertain significance	2023-01-31	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Uncertain significance	2019-05-28	criteria provided, single submitter	Squamous cell carcinoma of the head and neck	unknown	Detail
Uncertain significance	2023-08-23	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.917G>A (p.Arg306Gln) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.917G>A (p.Arg306Gln) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.917G>A (p.Arg306Gln) AND Familial cancer of breast	ClinVar	Detail
NM_000546.6(TP53):c.917G>A (p.Arg306Gln) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.917G>A (p.Arg306Gln) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.917G>A (p.Arg306Gln) AND not specified	ClinVar	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: rs1048095040 dbSNP
Genome: hg19
Position: chr17:7,577,021-7,577,021
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser

chr17:7577021:C>T Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Clinical information of patient(s) with this variant provided by the submitter(s)

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript