chr17:7577511:A>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	chr17:7,577,511-7,577,511
hg38	chr17:7,674,193-7,674,193 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.770T>A	NP_000537.3:p.Leu257Gln
	NM_001126112.2:c.770T>A	NP_001119584.1:p.Leu257Gln
	NM_001276760.1:c.770T>A	NP_001263689.1:p.Leu257Gln
	NM_001276761.1:c.770T>A	NP_001263690.1:p.Leu257Gln
	NM_001126113.2:c.770T>A	NP_001119585.1:p.Leu257Gln
	NM_001276695.1:c.770T>A	NP_001263624.1:p.Leu257Gln
	NM_001126116.1:c.374T>A	NP_001119588.1:p.Leu125Gln
	NM_001276698.1:c.374T>A	NP_001263627.1:p.Leu125Gln
	NM_001126118.1:c.653T>A	NP_001119590.1:p.Leu218Gln
	NM_001126117.1:c.293T>A	NP_001119589.1:p.Leu98Gln
	NM_001276699.1:c.293T>A	NP_001263628.1:p.Leu98Gln
	NM_001126115.1:c.293T>A	NP_001119587.1:p.Leu98Gln
	NM_001276697.1:c.293T>A	NP_001263626.1:p.Leu98Gln
	NM_001276696.1:c.653T>A	NP_001263625.1:p.Leu218Gln
Ensemble	ENST00000504290.5:c.374T>A	ENST00000504290.5:p.Leu125Gln
	ENST00000610538.4:c.653T>A	ENST00000610538.4:p.Leu218Gln
	ENST00000269305.9:c.770T>A	ENST00000269305.9:p.Leu257Gln
	ENST00000618944.4:c.293T>A	ENST00000618944.4:p.Leu98Gln
	ENST00000359597.8:c.770T>A	ENST00000359597.8:p.Leu257Gln
	ENST00000413465.6:c.770T>A	ENST00000413465.6:p.Leu257Gln
	ENST00000420246.6:c.770T>A	ENST00000420246.6:p.Leu257Gln
	ENST00000445888.6:c.770T>A	ENST00000445888.6:p.Leu257Gln
	ENST00000455263.6:c.770T>A	ENST00000455263.6:p.Leu257Gln
	ENST00000714359.1:c.770T>A	ENST00000714359.1:p.Leu257Gln
	ENST00000714408.1:c.770T>A	ENST00000714408.1:p.Leu257Gln
	ENST00000504937.5:c.374T>A	ENST00000504937.5:p.Leu125Gln
	ENST00000510385.5:c.374T>A	ENST00000510385.5:p.Leu125Gln
	ENST00000576024.2:c.770T>A	ENST00000576024.2:p.Leu257Gln
	ENST00000604348.6:c.749T>A	ENST00000604348.6:p.Leu250Gln
	ENST00000610292.4:c.653T>A	ENST00000610292.4:p.Leu218Gln
	ENST00000610623.4:c.293T>A	ENST00000610623.4:p.Leu98Gln
	ENST00000619186.4:c.293T>A	ENST00000619186.4:p.Leu98Gln
	ENST00000714409.1:c.770T>A	ENST00000714409.1:p.Leu257Gln
	ENST00000619485.4:c.653T>A	ENST00000619485.4:p.Leu218Gln
	ENST00000620739.4:c.653T>A	ENST00000620739.4:p.Leu218Gln
	ENST00000622645.4:c.653T>A	ENST00000622645.4:p.Leu218Gln
	ENST00000714356.1:c.653T>A	ENST00000714356.1:p.Leu218Gln
	ENST00000714357.1:c.770T>A	ENST00000714357.1:p.Leu257Gln

Summary

MGeND

Clinical significance	Uncertain significance not provided
Variant entry	13
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	COSM4139864	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Condition	Origin	Submission ID	Submitter	Institute
not provided	bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	fundus of stomach	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	sigmoid colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Uncertain significance	Squamous cell carcinoma of esophagus (disorder)	unknown	MGS000021 (TMGS000080)	Manabu Muto	Kyoto University
not provided	fundus of stomach	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
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	bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	malignant neoplasm of rectum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1995-01-01	no assertion criteria provided	Li-fraumeni-like syndrome	germline	Detail
Uncertain significance	2023-06-15	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Pathogenic	2020-09-25	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.126	Li-fraumeni-like syndrome	NA	CLINVAR		Detail
0.441	Li-Fraumeni syndrome 1	Database of mutations in the p53 and APC tumor suppressor genes designed to faci...	UNIPROT	8829653	Detail
0.441	Li-Fraumeni syndrome 1	p53 mutations in human cancers.	UNIPROT	1905840	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.770T>A (p.Leu257Gln) AND Li-fraumeni-like syndrome	ClinVar	Detail
NM_000546.6(TP53):c.770T>A (p.Leu257Gln) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.770T>A (p.Leu257Gln) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.770T>A (p.Leu257Gln) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epi...	DisGeNET	Detail
p53 mutations in human cancers.	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: rs28934577 dbSNP
Genome: hg19
Position: chr17:7,577,511-7,577,511
Variant Type: snv
Reference Allele: A
Alternative Allele: T

Genome browser

chr17:7577511:A>T Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript