chr17:7577093:C>A Detail (hg19) (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	chr17:7,577,093-7,577,093
hg38	chr17:7,673,775-7,673,775 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126117.1:c.368G>T	NP_001119589.1:p.Arg123Leu
	NM_001276699.1:c.368G>T	NP_001263628.1:p.Arg123Leu
	NM_001126113.2:c.845G>T	NP_001119585.1:p.Arg282Leu
	NM_001276695.1:c.845G>T	NP_001263624.1:p.Arg282Leu
	NM_001276696.1:c.728G>T	NP_001263625.1:p.Arg243Leu
	NM_001126118.1:c.728G>T	NP_001119590.1:p.Arg243Leu
	NM_001126115.1:c.368G>T	NP_001119587.1:p.Arg123Leu
	NM_001276697.1:c.368G>T	NP_001263626.1:p.Arg123Leu
	NM_000546.5:c.845G>T	NP_000537.3:p.Arg282Leu
	NM_001126112.2:c.845G>T	NP_001119584.1:p.Arg282Leu
	NM_001276760.1:c.845G>T	NP_001263689.1:p.Arg282Leu
	NM_001276761.1:c.845G>T	NP_001263690.1:p.Arg282Leu
	NM_001126116.1:c.449G>T	NP_001119588.1:p.Arg150Leu
	NM_001276698.1:c.449G>T	NP_001263627.1:p.Arg150Leu
Ensemble	ENST00000618944.4:c.368G>T	ENST00000618944.4:p.Arg123Leu
	ENST00000445888.6:c.845G>T	ENST00000445888.6:p.Arg282Leu
	ENST00000504937.5:c.449G>T	ENST00000504937.5:p.Arg150Leu
	ENST00000714408.1:c.845G>T	ENST00000714408.1:p.Arg282Leu
	ENST00000576024.2:c.845G>T	ENST00000576024.2:p.Arg282Leu
	ENST00000610623.4:c.368G>T	ENST00000610623.4:p.Arg123Leu
	ENST00000455263.6:c.845G>T	ENST00000455263.6:p.Arg282Leu
	ENST00000620739.4:c.728G>T	ENST00000620739.4:p.Arg243Leu
	ENST00000359597.8:c.845G>T	ENST00000359597.8:p.Arg282Leu
	ENST00000714409.1:c.845G>T	ENST00000714409.1:p.Arg282Leu
	ENST00000413465.6:c.782+406G>T
	ENST00000714356.1:c.728G>T	ENST00000714356.1:p.Arg243Leu
	ENST00000714359.1:c.845G>T	ENST00000714359.1:p.Arg282Leu
	ENST00000622645.4:c.728G>T	ENST00000622645.4:p.Arg243Leu
	ENST00000504290.5:c.449G>T	ENST00000504290.5:p.Arg150Leu
	ENST00000714357.1:c.845G>T	ENST00000714357.1:p.Arg282Leu
	ENST00000610538.4:c.728G>T	ENST00000610538.4:p.Arg243Leu
	ENST00000610292.4:c.728G>T	ENST00000610292.4:p.Arg243Leu
	ENST00000619186.4:c.368G>T	ENST00000619186.4:p.Arg123Leu
	ENST00000619485.4:c.728G>T	ENST00000619485.4:p.Arg243Leu
	ENST00000420246.6:c.845G>T	ENST00000420246.6:p.Arg282Leu
	ENST00000604348.6:c.824G>T	ENST00000604348.6:p.Arg275Leu
	ENST00000269305.9:c.845G>T	ENST00000269305.9:p.Arg282Leu
	ENST00000510385.5:c.449G>T	ENST00000510385.5:p.Arg150Leu

Summary

MGeND

Clinical significance
Variant entry
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	COSM6957098	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-10-12	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2019-04-16	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2024-01-19	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Uncertain significance	2021-04-12	reviewed by expert panel	Li-Fraumeni syndrome 1	germline	Detail
Uncertain significance	2022-06-08	no assertion criteria provided	not specified	germline	Detail
Uncertain significance	2023-06-23	criteria provided, single submitter	Adrenocortical carcinoma, hereditary	unknown	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
stomach carcinoma	EAP Protocol	C	Predictive	Supports	Sensitivity/Response	Somatic		14514923	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
In a study of 25 patients with advanced gastric cancer, mutations in TP53 were identified in 32% of ...	CIViC Evidence	Detail
NM_000546.6(TP53):c.845G>T (p.Arg282Leu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.845G>T (p.Arg282Leu) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.845G>T (p.Arg282Leu) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.845G>T (p.Arg282Leu) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.845G>T (p.Arg282Leu) AND not specified	ClinVar	Detail
NM_000546.6(TP53):c.845G>T (p.Arg282Leu) AND Adrenocortical carcinoma, hereditary	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: rs730882008 dbSNP
Genome: hg19
Position: chr17:7,577,093-7,577,093
Variant Type: snv
Reference Allele: C
Alternative Allele: A
Variant (CIViC) (CIViC Variant): R282L
Transcript 1 (CIViC Variant): ENST00000269305.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1108

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