chr17:7578457: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	chr17:7,578,457-7,578,457
hg38	chr17:7,675,139-7,675,139 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.473G>A	NP_000537.3:p.Arg158His
	NM_001126112.2:c.473G>A	NP_001119584.1:p.Arg158His
	NM_001276760.1:c.473G>A	NP_001263689.1:p.Arg158His
	NM_001276761.1:c.473G>A	NP_001263690.1:p.Arg158His
	NM_001126113.2:c.473G>A	NP_001119585.1:p.Arg158His
	NM_001276695.1:c.473G>A	NP_001263624.1:p.Arg158His
	NM_001126116.1:c.77G>A	NP_001119588.1:p.Arg26His
	NM_001276698.1:c.77G>A	NP_001263627.1:p.Arg26His
	NM_001126118.1:c.356G>A	NP_001119590.1:p.Arg119His
	NM_001126117.1:c.-5G>A
	NM_001276699.1:c.-5G>A
	NM_001126115.1:c.-5G>A
	NM_001276697.1:c.-5G>A
	NM_001276696.1:c.356G>A	NP_001263625.1:p.Arg119His
Ensemble	ENST00000604348.6:c.452G>A	ENST00000604348.6:p.Arg151His
	ENST00000420246.6:c.473G>A	ENST00000420246.6:p.Arg158His
	ENST00000445888.6:c.473G>A	ENST00000445888.6:p.Arg158His
	ENST00000413465.6:c.473G>A	ENST00000413465.6:p.Arg158His
	ENST00000269305.9:c.473G>A	ENST00000269305.9:p.Arg158His
	ENST00000455263.6:c.473G>A	ENST00000455263.6:p.Arg158His
	ENST00000504290.5:c.77G>A	ENST00000504290.5:p.Arg26His
	ENST00000504937.5:c.77G>A	ENST00000504937.5:p.Arg26His
	ENST00000510385.5:c.77G>A	ENST00000510385.5:p.Arg26His
	ENST00000576024.2:c.473G>A	ENST00000576024.2:p.Arg158His
	ENST00000714409.1:c.473G>A	ENST00000714409.1:p.Arg158His
	ENST00000359597.8:c.473G>A	ENST00000359597.8:p.Arg158His
	ENST00000610292.4:c.356G>A	ENST00000610292.4:p.Arg119His
	ENST00000610538.4:c.356G>A	ENST00000610538.4:p.Arg119His
	ENST00000610623.4:c.-5G>A
	ENST00000618944.4:c.-5G>A
	ENST00000619186.4:c.-5G>A
	ENST00000619485.4:c.356G>A	ENST00000619485.4:p.Arg119His
	ENST00000620739.4:c.356G>A	ENST00000620739.4:p.Arg119His
	ENST00000622645.4:c.356G>A	ENST00000622645.4:p.Arg119His
	ENST00000714356.1:c.356G>A	ENST00000714356.1:p.Arg119His
	ENST00000714357.1:c.473G>A	ENST00000714357.1:p.Arg158His
	ENST00000714359.1:c.473G>A	ENST00000714359.1:p.Arg158His
	ENST00000714408.1:c.473G>A	ENST00000714408.1:p.Arg158His

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic not provided
Variant entry	41
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	COSM3378357	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation
Pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	caecum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	ascending colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	descending colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	colon, unspecified	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	malignant neoplasm of rectum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	ill-defined sites within the digestive system	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2018/05/31	bronchus or lung, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2018/05/31	breast, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2018/05/31	malignant neoplasm of rectum	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2018/05/31	stomach, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
not provided		Carcinoma of lower third of esophagus (disorder)	unknown	MGS000021 (TMGS000080)	Manabu Muto	Kyoto University
not provided		Soft tissue sarcoma	somatic	MGS000018 (TMGS000110)	Hitoshi Nakagama	National Cancer Center Japan	30742731
Pathogenic	2020/04/20	caecum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	ascending colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	descending colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	sigmoid colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	colon, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	malignant neoplasm of rectum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	ill-defined sites within the digestive system	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	jejunum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	malignant neoplasm of rectum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	body of pancreas	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	ill-defined sites within the digestive system	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2023-05-11	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-01-19	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome	germline	Detail
Pathogenic	2023-04-12	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic Likely pathogenic	2024-02-14	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome 1	germline unknown	Detail
Pathogenic	2020-09-01	no assertion criteria provided	rhabdomyosarcoma	germline	Detail
Pathogenic	2023-05-24	criteria provided, single submitter	Adrenocortical carcinoma, hereditary	unknown	Detail
Likely pathogenic	2022-12-23	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
cancer	AMGMDS3	D	Predictive	Supports	Resistance	Somatic	4	25730903	Detail

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 1...	CIViC Evidence	Detail
NM_000546.6(TP53):c.473G>A (p.Arg158His) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.473G>A (p.Arg158His) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.473G>A (p.Arg158His) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.473G>A (p.Arg158His) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.473G>A (p.Arg158His) AND Rhabdomyosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.473G>A (p.Arg158His) AND Adrenocortical carcinoma, hereditary	ClinVar	Detail
NM_000546.6(TP53):c.473G>A (p.Arg158His) AND Breast and/or ovarian cancer	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: rs587782144 dbSNP
Genome: hg19
Position: chr17:7,578,457-7,578,457
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121224
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.249191579225235E-6
Variant (CIViC) (CIViC Variant): R158H
Transcript 1 (CIViC Variant): ENST00000269305.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1695

Genome browser

chr17:7578457:C>T Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript