chr17:7578265:A>G 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	chr17:7,578,265-7,578,265
hg38	chr17:7,674,947-7,674,947 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126116.1:c.188T>C	NP_001119588.1:p.Ile63Thr
	NM_001276698.1:c.188T>C	NP_001263627.1:p.Ile63Thr
	NM_000546.5:c.584T>C	NP_000537.3:p.Ile195Thr
	NM_001126112.2:c.584T>C	NP_001119584.1:p.Ile195Thr
	NM_001276760.1:c.584T>C	NP_001263689.1:p.Ile195Thr
	NM_001276761.1:c.584T>C	NP_001263690.1:p.Ile195Thr
	NM_001126113.2:c.584T>C	NP_001119585.1:p.Ile195Thr
	NM_001276695.1:c.584T>C	NP_001263624.1:p.Ile195Thr
	NM_001126118.1:c.467T>C	NP_001119590.1:p.Ile156Thr
	NM_001126117.1:c.107T>C	NP_001119589.1:p.Ile36Thr
	NM_001276699.1:c.107T>C	NP_001263628.1:p.Ile36Thr
	NM_001126115.1:c.107T>C	NP_001119587.1:p.Ile36Thr
	NM_001276697.1:c.107T>C	NP_001263626.1:p.Ile36Thr
	NM_001276696.1:c.467T>C	NP_001263625.1:p.Ile156Thr
Ensemble	ENST00000510385.5:c.188T>C	ENST00000510385.5:p.Ile63Thr
	ENST00000504937.5:c.188T>C	ENST00000504937.5:p.Ile63Thr
	ENST00000576024.2:c.584T>C	ENST00000576024.2:p.Ile195Thr
	ENST00000604348.6:c.563T>C	ENST00000604348.6:p.Ile188Thr
	ENST00000413465.6:c.584T>C	ENST00000413465.6:p.Ile195Thr
	ENST00000269305.9:c.584T>C	ENST00000269305.9:p.Ile195Thr
	ENST00000359597.8:c.584T>C	ENST00000359597.8:p.Ile195Thr
	ENST00000420246.6:c.584T>C	ENST00000420246.6:p.Ile195Thr
	ENST00000445888.6:c.584T>C	ENST00000445888.6:p.Ile195Thr
	ENST00000455263.6:c.584T>C	ENST00000455263.6:p.Ile195Thr
	ENST00000504290.5:c.188T>C	ENST00000504290.5:p.Ile63Thr
	ENST00000610292.4:c.467T>C	ENST00000610292.4:p.Ile156Thr
	ENST00000610538.4:c.467T>C	ENST00000610538.4:p.Ile156Thr
	ENST00000610623.4:c.107T>C	ENST00000610623.4:p.Ile36Thr
	ENST00000618944.4:c.107T>C	ENST00000618944.4:p.Ile36Thr
	ENST00000619186.4:c.107T>C	ENST00000619186.4:p.Ile36Thr
	ENST00000619485.4:c.467T>C	ENST00000619485.4:p.Ile156Thr
	ENST00000620739.4:c.467T>C	ENST00000620739.4:p.Ile156Thr
	ENST00000622645.4:c.467T>C	ENST00000622645.4:p.Ile156Thr
	ENST00000714356.1:c.467T>C	ENST00000714356.1:p.Ile156Thr
	ENST00000714357.1:c.584T>C	ENST00000714357.1:p.Ile195Thr
	ENST00000714359.1:c.584T>C	ENST00000714359.1:p.Ile195Thr
	ENST00000714408.1:c.584T>C	ENST00000714408.1:p.Ile195Thr
	ENST00000714409.1:c.584T>C	ENST00000714409.1:p.Ile195Thr

Summary

MGeND

Clinical significance	Pathogenic not provided
Variant entry	46
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	COSM3421936	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	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	upper third of oesophagus	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	stomach, unspecified	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	descending colon	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	malignant neoplasm of rectosigmoid junction	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	malignant neoplasm of rectum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	ill-defined sites within the digestive system	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	Myelodysplastic syndromes	somatic	MGS000005 (TMGS000006)	Keizo Horibe	National Hospital Organization Nagoya Medical Center
Pathogenic	Head and Neck	somatic	MGS000038 (TMGS000091)	Manabu Muto Ichiro Kinoshita	Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
not provided	stomach cancer	somatic	MGS000039 (TMGS000092)	Hitoshi Nakagama	National Cancer Center Japan	29659903
not provided	other	somatic	MGS000039 (TMGS000092)	Hitoshi Nakagama	National Cancer Center Japan	29659903
not provided	pyloric antrum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	ascending colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	sigmoid colon	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	malignant neoplasm of rectum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	head of pancreas	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	ill-defined sites within the digestive system	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	lower third of oesophagus	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	colon, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	malignant neoplasm of rectosigmoid junction	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	malignant neoplasm of rectum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	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	2023-12-27	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of brain	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	somatic	Detail
Uncertain significance	2022-06-06	criteria provided, single submitter	lung adenocarcinoma	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	Carcinoma of esophagus	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	B-cell chronic lymphocytic leukemia	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell lung carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	glioblastoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	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	uterine carcinosarcoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell carcinoma of the head and neck	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	multiple myeloma	somatic	Detail
Pathogenic	2022-06-30	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Pathogenic	2022-06-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2019-06-11	no assertion criteria provided	Breast and/or ovarian cancer	germline	Detail
Pathogenic	2024-02-15	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome 1	germline unknown	Detail
Pathogenic	2022-11-09	criteria provided, single submitter	Adrenocortical carcinoma, hereditary	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.369	Li-Fraumeni syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Acute myeloid leukemia	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND B-cell chronic lymphocytic leukemia	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Glioblastoma	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Uterine carcinosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Multiple myeloma	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) 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: rs760043106 dbSNP
Genome: hg19
Position: chr17:7,578,265-7,578,265
Variant Type: snv
Reference Allele: A
Alternative Allele: G

Genome browser

chr17:7578265:A>G Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript