chr17:7578204:A>C 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	chr17:7,578,204-7,578,204
hg38	chr17:7,674,886-7,674,886 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126116.1:c.249T>G	NP_001119588.1:p.Ser83Arg
	NM_001276698.1:c.249T>G	NP_001263627.1:p.Ser83Arg
	NM_000546.5:c.645T>G	NP_000537.3:p.Ser215Arg
	NM_001126112.2:c.645T>G	NP_001119584.1:p.Ser215Arg
	NM_001276760.1:c.645T>G	NP_001263689.1:p.Ser215Arg
	NM_001276761.1:c.645T>G	NP_001263690.1:p.Ser215Arg
	NM_001126113.2:c.645T>G	NP_001119585.1:p.Ser215Arg
	NM_001276695.1:c.645T>G	NP_001263624.1:p.Ser215Arg
	NM_001276696.1:c.528T>G	NP_001263625.1:p.Ser176Arg
	NM_001126118.1:c.528T>G	NP_001119590.1:p.Ser176Arg
	NM_001126117.1:c.168T>G	NP_001119589.1:p.Ser56Arg
	NM_001276699.1:c.168T>G	NP_001263628.1:p.Ser56Arg
	NM_001126115.1:c.168T>G	NP_001119587.1:p.Ser56Arg
	NM_001276697.1:c.168T>G	NP_001263626.1:p.Ser56Arg
Ensemble	ENST00000604348.6:c.624T>G	ENST00000604348.6:p.Ser208Arg
	ENST00000576024.2:c.645T>G	ENST00000576024.2:p.Ser215Arg
	ENST00000504937.5:c.249T>G	ENST00000504937.5:p.Ser83Arg
	ENST00000510385.5:c.249T>G	ENST00000510385.5:p.Ser83Arg
	ENST00000269305.9:c.645T>G	ENST00000269305.9:p.Ser215Arg
	ENST00000359597.8:c.645T>G	ENST00000359597.8:p.Ser215Arg
	ENST00000413465.6:c.645T>G	ENST00000413465.6:p.Ser215Arg
	ENST00000420246.6:c.645T>G	ENST00000420246.6:p.Ser215Arg
	ENST00000445888.6:c.645T>G	ENST00000445888.6:p.Ser215Arg
	ENST00000455263.6:c.645T>G	ENST00000455263.6:p.Ser215Arg
	ENST00000504290.5:c.249T>G	ENST00000504290.5:p.Ser83Arg
	ENST00000622645.4:c.528T>G	ENST00000622645.4:p.Ser176Arg
	ENST00000714356.1:c.528T>G	ENST00000714356.1:p.Ser176Arg
	ENST00000610292.4:c.528T>G	ENST00000610292.4:p.Ser176Arg
	ENST00000610538.4:c.528T>G	ENST00000610538.4:p.Ser176Arg
	ENST00000610623.4:c.168T>G	ENST00000610623.4:p.Ser56Arg
	ENST00000618944.4:c.168T>G	ENST00000618944.4:p.Ser56Arg
	ENST00000619186.4:c.168T>G	ENST00000619186.4:p.Ser56Arg
	ENST00000619485.4:c.528T>G	ENST00000619485.4:p.Ser176Arg
	ENST00000620739.4:c.528T>G	ENST00000620739.4:p.Ser176Arg
	ENST00000714357.1:c.645T>G	ENST00000714357.1:p.Ser215Arg
	ENST00000714359.1:c.645T>G	ENST00000714359.1:p.Ser215Arg
	ENST00000714408.1:c.645T>G	ENST00000714408.1:p.Ser215Arg
	ENST00000714409.1:c.645T>G	ENST00000714409.1:p.Ser215Arg

Summary

MGeND

Clinical significance	Pathogenic Uncertain significance not provided
Variant entry	7
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	COSM4432875	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation
Uncertain significance	2018/01/13	breast, unspecified	germline	MGS000028 (TMGS000049)	Yukihide Momozawa	RIKEN	30287823
Pathogenic	2021/03/19	control	germline	MGS000047 (TMGS000111)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo
not provided		malignant neoplasm of rectum	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
not provided		colon, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	ovarian serous cystadenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Small cell lung carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Carcinoma of esophagus	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	acute myeloid leukemia	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Pathogenic	2023-07-21	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2023-04-11	criteria provided, conflicting interpretations	Li-Fraumeni syndrome 1	germline unknown	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Uncertain significance	2022-06-18	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.645T>G (p.Ser215Arg) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) AND Small cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) AND Acute myeloid leukemia	ClinVar	Detail
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) AND Hereditary cancer-predisposing syndrome	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: rs1057520001 dbSNP
Genome: hg19
Position: chr17:7,578,204-7,578,204
Variant Type: snv
Reference Allele: A
Alternative Allele: C

Genome browser

chr17:7578204:A>C 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