chr17:7675214:A>G Detail (hg38) (TP53)

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

Genome

Assembly	Position
hg19	chr17:7,578,532-7,578,532 View the variant detail on this assembly version.
hg38	chr17:7,675,214-7,675,214

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.398T>C	NP_000537.3:p.Met133Thr
	NM_001126112.2:c.398T>C	NP_001119584.1:p.Met133Thr
	NM_001276760.1:c.398T>C	NP_001263689.1:p.Met133Thr
	NM_001276761.1:c.398T>C	NP_001263690.1:p.Met133Thr
	NM_001126113.2:c.398T>C	NP_001119585.1:p.Met133Thr
	NM_001276695.1:c.398T>C	NP_001263624.1:p.Met133Thr
	NM_001126116.1:c.2T>C	NP_001119588.1:p.?
	NM_001276698.1:c.2T>C	NP_001263627.1:p.?
	NM_001126118.1:c.281T>C	NP_001119590.1:p.Met94Thr
	NM_001126117.1:c.-80T>C
	NM_001276699.1:c.-80T>C
	NM_001126115.1:c.-80T>C
	NM_001276697.1:c.-80T>C
	NM_001276696.1:c.281T>C	NP_001263625.1:p.Met94Thr
Ensemble	ENST00000269305.9:c.398T>C	ENST00000269305.9:p.Met133Thr
	ENST00000359597.8:c.398T>C	ENST00000359597.8:p.Met133Thr
	ENST00000413465.6:c.398T>C	ENST00000413465.6:p.Met133Thr
	ENST00000420246.6:c.398T>C	ENST00000420246.6:p.Met133Thr
	ENST00000445888.6:c.398T>C	ENST00000445888.6:p.Met133Thr
	ENST00000504290.5:c.2T>C	ENST00000504290.5:p.?
	ENST00000455263.6:c.398T>C	ENST00000455263.6:p.Met133Thr
	ENST00000504937.5:c.2T>C	ENST00000504937.5:p.?
	ENST00000510385.5:c.2T>C	ENST00000510385.5:p.?
	ENST00000576024.2:c.398T>C	ENST00000576024.2:p.Met133Thr
	ENST00000604348.6:c.377T>C	ENST00000604348.6:p.Met126Thr
	ENST00000610292.4:c.281T>C	ENST00000610292.4:p.Met94Thr
	ENST00000610538.4:c.281T>C	ENST00000610538.4:p.Met94Thr
	ENST00000610623.4:c.-80T>C
	ENST00000618944.4:c.-80T>C
	ENST00000619186.4:c.-80T>C
	ENST00000619485.4:c.281T>C	ENST00000619485.4:p.Met94Thr
	ENST00000620739.4:c.281T>C	ENST00000620739.4:p.Met94Thr
	ENST00000622645.4:c.281T>C	ENST00000622645.4:p.Met94Thr
	ENST00000714356.1:c.281T>C	ENST00000714356.1:p.Met94Thr
	ENST00000714357.1:c.398T>C	ENST00000714357.1:p.Met133Thr
	ENST00000714359.1:c.398T>C	ENST00000714359.1:p.Met133Thr
	ENST00000714408.1:c.398T>C	ENST00000714408.1:p.Met133Thr
	ENST00000714409.1:c.398T>C	ENST00000714409.1:p.Met133Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM3712458	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-06-18	criteria provided, single submitter	Li-Fraumeni syndrome 1	germline	Detail
Pathogenic	2023-10-26	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2021-06-09	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.441	Li-Fraumeni syndrome 1	NA	CLINVAR		Detail
0.005	Acute Erythroblastic Leukemia	In conclusion, persistently active STAT5 can recruit normal p53, like in the cas...	BeFree	24681953	Detail
0.441	Li-Fraumeni syndrome 1	We report here on the identification of a p53 germ line mutation at codon 133 (A...	UNIPROT	1933902	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.398T>C (p.Met133Thr) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.398T>C (p.Met133Thr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.398T>C (p.Met133Thr) AND Li-Fraumeni syndrome	ClinVar	Detail
NA	DisGeNET	Detail
In conclusion, persistently active STAT5 can recruit normal p53, like in the case of MPN cells, but ...	DisGeNET	Detail
We report here on the identification of a p53 germ line mutation at codon 133 (ATG----ACG) in nine m...	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: rs28934873 dbSNP
Genome: hg38
Position: chr17:7,675,214-7,675,214
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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