chr17:7577082:C>T Detail (hg19) (TP53)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr17:7,577,082-7,577,082
hg38	chr17:7,673,764-7,673,764 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126116.1:c.460G>A	NP_001119588.1:p.Glu154Lys
	NM_001276698.1:c.460G>A	NP_001263627.1:p.Glu154Lys
	NM_000546.5:c.856G>A	NP_000537.3:p.Glu286Lys
	NM_001126112.2:c.856G>A	NP_001119584.1:p.Glu286Lys
	NM_001276760.1:c.856G>A	NP_001263689.1:p.Glu286Lys
	NM_001276761.1:c.856G>A	NP_001263690.1:p.Glu286Lys
	NM_001126113.2:c.856G>A	NP_001119585.1:p.Glu286Lys
	NM_001276695.1:c.856G>A	NP_001263624.1:p.Glu286Lys
	NM_001126118.1:c.739G>A	NP_001119590.1:p.Glu247Lys
	NM_001126117.1:c.379G>A	NP_001119589.1:p.Glu127Lys
	NM_001276699.1:c.379G>A	NP_001263628.1:p.Glu127Lys
	NM_001126115.1:c.379G>A	NP_001119587.1:p.Glu127Lys
	NM_001276697.1:c.379G>A	NP_001263626.1:p.Glu127Lys
	NM_001276696.1:c.739G>A	NP_001263625.1:p.Glu247Lys
Ensemble	ENST00000510385.5:c.460G>A	ENST00000510385.5:p.Glu154Lys
	ENST00000504937.5:c.460G>A	ENST00000504937.5:p.Glu154Lys
	ENST00000576024.2:c.856G>A	ENST00000576024.2:p.Glu286Lys
	ENST00000604348.6:c.835G>A	ENST00000604348.6:p.Glu279Lys
	ENST00000359597.8:c.856G>A	ENST00000359597.8:p.Glu286Lys
	ENST00000269305.9:c.856G>A	ENST00000269305.9:p.Glu286Lys
	ENST00000413465.6:c.782+417G>A
	ENST00000420246.6:c.856G>A	ENST00000420246.6:p.Glu286Lys
	ENST00000445888.6:c.856G>A	ENST00000445888.6:p.Glu286Lys
	ENST00000455263.6:c.856G>A	ENST00000455263.6:p.Glu286Lys
	ENST00000504290.5:c.460G>A	ENST00000504290.5:p.Glu154Lys
	ENST00000714357.1:c.856G>A	ENST00000714357.1:p.Glu286Lys
	ENST00000610292.4:c.739G>A	ENST00000610292.4:p.Glu247Lys
	ENST00000610538.4:c.739G>A	ENST00000610538.4:p.Glu247Lys
	ENST00000610623.4:c.379G>A	ENST00000610623.4:p.Glu127Lys
	ENST00000618944.4:c.379G>A	ENST00000618944.4:p.Glu127Lys
	ENST00000619186.4:c.379G>A	ENST00000619186.4:p.Glu127Lys
	ENST00000619485.4:c.739G>A	ENST00000619485.4:p.Glu247Lys
	ENST00000620739.4:c.739G>A	ENST00000620739.4:p.Glu247Lys
	ENST00000622645.4:c.739G>A	ENST00000622645.4:p.Glu247Lys
	ENST00000714356.1:c.739G>A	ENST00000714356.1:p.Glu247Lys
	ENST00000714359.1:c.856G>A	ENST00000714359.1:p.Glu286Lys
	ENST00000714408.1:c.856G>A	ENST00000714408.1:p.Glu286Lys
	ENST00000714409.1:c.856G>A	ENST00000714409.1:p.Glu286Lys

Summary

MGeND

Clinical significance	Pathogenic not provided
Variant entry	29
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	COSM3522693	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Condition	Origin	Submission ID	Submitter	Institute	Citation
not provided	fundus of stomach	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	body of stomach	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	pyloric antrum	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	malignant neoplasm of rectum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	Carcinoma of pancreas (disorder)	unknown	MGS000021 (TMGS000080)	Manabu Muto	Kyoto University
not provided	Biliary cancer	somatic	MGS000018 (TMGS000110)	Hitoshi Nakagama	National Cancer Center Japan	30742731
not provided	Non-small cell lung cancer	somatic	MGS000018 (TMGS000110)	Hitoshi Nakagama	National Cancer Center Japan	30742731
not provided	Glioma	somatic	MGS000018 (TMGS000110)	Hitoshi Nakagama	National Cancer Center Japan	30742731
not provided	colon, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	extrahepatic bile duct	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	fundus of stomach	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	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	bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-06-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2021-06-22	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	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	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	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant melanoma of skin	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of brain	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	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	ovarian serous cystadenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Pathogenic	2023-12-11	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic		no assertion criteria provided	Vulvar adenocarcinoma of mammary gland type	somatic	Detail
Pathogenic Likely pathogenic	2024-02-21	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome 1	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Acute myeloid leukemia	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Malignant melanoma of skin	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Squamous cell carcinoma of the skin	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Small cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Vulvar adenocarcinoma of mammary gland type	ClinVar	Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Li-Fraumeni syndrome 1	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: rs786201059 dbSNP
Genome: hg19
Position: chr17:7,577,082-7,577,082
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser

chr17:7577082:C>T Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript