chr17:7577085: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	chr17:7,577,085-7,577,085
hg38	chr17:7,673,767-7,673,767 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126116.1:c.457G>A	NP_001119588.1:p.Glu153Lys
	NM_001276698.1:c.457G>A	NP_001263627.1:p.Glu153Lys
	NM_000546.5:c.853G>A	NP_000537.3:p.Glu285Lys
	NM_001126112.2:c.853G>A	NP_001119584.1:p.Glu285Lys
	NM_001276760.1:c.853G>A	NP_001263689.1:p.Glu285Lys
	NM_001276761.1:c.853G>A	NP_001263690.1:p.Glu285Lys
	NM_001276696.1:c.736G>A	NP_001263625.1:p.Glu246Lys
	NM_001126113.2:c.853G>A	NP_001119585.1:p.Glu285Lys
	NM_001276695.1:c.853G>A	NP_001263624.1:p.Glu285Lys
	NM_001126118.1:c.736G>A	NP_001119590.1:p.Glu246Lys
	NM_001126117.1:c.376G>A	NP_001119589.1:p.Glu126Lys
	NM_001276699.1:c.376G>A	NP_001263628.1:p.Glu126Lys
	NM_001126115.1:c.376G>A	NP_001119587.1:p.Glu126Lys
	NM_001276697.1:c.376G>A	NP_001263626.1:p.Glu126Lys
Ensemble	ENST00000604348.6:c.832G>A	ENST00000604348.6:p.Glu278Lys
	ENST00000420246.6:c.853G>A	ENST00000420246.6:p.Glu285Lys
	ENST00000445888.6:c.853G>A	ENST00000445888.6:p.Glu285Lys
	ENST00000504937.5:c.457G>A	ENST00000504937.5:p.Glu153Lys
	ENST00000510385.5:c.457G>A	ENST00000510385.5:p.Glu153Lys
	ENST00000359597.8:c.853G>A	ENST00000359597.8:p.Glu285Lys
	ENST00000576024.2:c.853G>A	ENST00000576024.2:p.Glu285Lys
	ENST00000413465.6:c.782+414G>A
	ENST00000269305.9:c.853G>A	ENST00000269305.9:p.Glu285Lys
	ENST00000620739.4:c.736G>A	ENST00000620739.4:p.Glu246Lys
	ENST00000622645.4:c.736G>A	ENST00000622645.4:p.Glu246Lys
	ENST00000455263.6:c.853G>A	ENST00000455263.6:p.Glu285Lys
	ENST00000504290.5:c.457G>A	ENST00000504290.5:p.Glu153Lys
	ENST00000610292.4:c.736G>A	ENST00000610292.4:p.Glu246Lys
	ENST00000610538.4:c.736G>A	ENST00000610538.4:p.Glu246Lys
	ENST00000610623.4:c.376G>A	ENST00000610623.4:p.Glu126Lys
	ENST00000618944.4:c.376G>A	ENST00000618944.4:p.Glu126Lys
	ENST00000619186.4:c.376G>A	ENST00000619186.4:p.Glu126Lys
	ENST00000619485.4:c.736G>A	ENST00000619485.4:p.Glu246Lys
	ENST00000714356.1:c.736G>A	ENST00000714356.1:p.Glu246Lys
	ENST00000714357.1:c.853G>A	ENST00000714357.1:p.Glu285Lys
	ENST00000714359.1:c.853G>A	ENST00000714359.1:p.Glu285Lys
	ENST00000714408.1:c.853G>A	ENST00000714408.1:p.Glu285Lys
	ENST00000714409.1:c.853G>A	ENST00000714409.1:p.Glu285Lys

Summary

MGeND

Clinical significance	Pathogenic not provided
Variant entry	46
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	COSM3717625	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	pyloric antrum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	duodenum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	transverse colon	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
not provided	malignant neoplasm of gallbladder	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	head of pancreas	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
Pathogenic	NSCLC	somatic	MGS000038 (TMGS000091)	Manabu Muto Ichiro Kinoshita	Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
Pathogenic	Others	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	Biliary 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	transverse 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 rectosigmoid junction	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	malignant neoplasm of gallbladder	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	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	body of stomach	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 Likely pathogenic	2021-11-03	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic Likely pathogenic	2022-06-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
drug response	2017-11-27	no assertion criteria provided		somatic	Detail
Pathogenic	2022-10-13	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2022-06-18	criteria provided, single submitter	Li-Fraumeni syndrome 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.002	severe combined immunodeficiency	Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)a...	BeFree	24077944	Detail
<0.001	severe combined immunodeficiency	Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)a...	BeFree	24077944	Detail
0.121	Adenocarcinoma Of Esophagus	Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)a...	BeFree	24077944	Detail
0.132	Adenocarcinoma Of Esophagus	Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)a...	BeFree	24077944	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) AND Poly (ADP-Ribose) polymerase inhibitor response	ClinVar	Detail
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) AND Li-Fraumeni syndrome 1	ClinVar	Detail
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c...	DisGeNET	Detail
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c...	DisGeNET	Detail
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c...	DisGeNET	Detail
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c...	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: rs112431538 dbSNP
Genome: hg19
Position: chr17:7,577,085-7,577,085
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser

chr17:7577085:C>T Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript