chr17:7578262:C>T 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	chr17:7,578,262-7,578,262
hg38	chr17:7,674,944-7,674,944 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126116.1:c.191G>A	NP_001119588.1:p.Arg64Gln
	NM_001276698.1:c.191G>A	NP_001263627.1:p.Arg64Gln
	NM_000546.5:c.587G>A	NP_000537.3:p.Arg196Gln
	NM_001126112.2:c.587G>A	NP_001119584.1:p.Arg196Gln
	NM_001276760.1:c.587G>A	NP_001263689.1:p.Arg196Gln
	NM_001276761.1:c.587G>A	NP_001263690.1:p.Arg196Gln
	NM_001126115.1:c.110G>A	NP_001119587.1:p.Arg37Gln
	NM_001276697.1:c.110G>A	NP_001263626.1:p.Arg37Gln
	NM_001126113.2:c.587G>A	NP_001119585.1:p.Arg196Gln
	NM_001276695.1:c.587G>A	NP_001263624.1:p.Arg196Gln
	NM_001126118.1:c.470G>A	NP_001119590.1:p.Arg157Gln
	NM_001126117.1:c.110G>A	NP_001119589.1:p.Arg37Gln
	NM_001276699.1:c.110G>A	NP_001263628.1:p.Arg37Gln
	NM_001276696.1:c.470G>A	NP_001263625.1:p.Arg157Gln
Ensemble	ENST00000576024.2:c.587G>A	ENST00000576024.2:p.Arg196Gln
	ENST00000604348.6:c.566G>A	ENST00000604348.6:p.Arg189Gln
	ENST00000504937.5:c.191G>A	ENST00000504937.5:p.Arg64Gln
	ENST00000510385.5:c.191G>A	ENST00000510385.5:p.Arg64Gln
	ENST00000269305.9:c.587G>A	ENST00000269305.9:p.Arg196Gln
	ENST00000618944.4:c.110G>A	ENST00000618944.4:p.Arg37Gln
	ENST00000619186.4:c.110G>A	ENST00000619186.4:p.Arg37Gln
	ENST00000359597.8:c.587G>A	ENST00000359597.8:p.Arg196Gln
	ENST00000413465.6:c.587G>A	ENST00000413465.6:p.Arg196Gln
	ENST00000420246.6:c.587G>A	ENST00000420246.6:p.Arg196Gln
	ENST00000445888.6:c.587G>A	ENST00000445888.6:p.Arg196Gln
	ENST00000455263.6:c.587G>A	ENST00000455263.6:p.Arg196Gln
	ENST00000504290.5:c.191G>A	ENST00000504290.5:p.Arg64Gln
	ENST00000610292.4:c.470G>A	ENST00000610292.4:p.Arg157Gln
	ENST00000610538.4:c.470G>A	ENST00000610538.4:p.Arg157Gln
	ENST00000610623.4:c.110G>A	ENST00000610623.4:p.Arg37Gln
	ENST00000619485.4:c.470G>A	ENST00000619485.4:p.Arg157Gln
	ENST00000620739.4:c.470G>A	ENST00000620739.4:p.Arg157Gln
	ENST00000622645.4:c.470G>A	ENST00000622645.4:p.Arg157Gln
	ENST00000714356.1:c.470G>A	ENST00000714356.1:p.Arg157Gln
	ENST00000714357.1:c.587G>A	ENST00000714357.1:p.Arg196Gln
	ENST00000714359.1:c.587G>A	ENST00000714359.1:p.Arg196Gln
	ENST00000714408.1:c.587G>A	ENST00000714408.1:p.Arg196Gln
	ENST00000714409.1:c.587G>A	ENST00000714409.1:p.Arg196Gln

Summary

MGeND

Clinical significance	Pathogenic not provided
Variant entry	9
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	COSM6932540	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		appendix	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		sigmoid colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		intrahepatic bile duct carcinoma	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/01/13	breast, unspecified	germline	MGS000028 (TMGS000049)	Yukihide Momozawa	RIKEN	30287823
Pathogenic	2021/03/19	breast	germline	MGS000048 (TMGS000112)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo
not provided		fundus of stomach	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		colon, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-12-17	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome	germline	Detail
Uncertain significance	2023-07-14	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Uncertain significance	2023-06-29	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2022-04-16	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2022-06-18	criteria provided, single submitter	Li-Fraumeni syndrome 1	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.587G>A (p.Arg196Gln) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.587G>A (p.Arg196Gln) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.587G>A (p.Arg196Gln) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.587G>A (p.Arg196Gln) AND not specified	ClinVar	Detail
NM_000546.6(TP53):c.587G>A (p.Arg196Gln) AND Li-Fraumeni syndrome 1	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: rs483352697 dbSNP
Genome: hg19
Position: chr17:7,578,262-7,578,262
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser

chr17:7578262: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