chr17:7674197:T>C 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	chr17:7,577,515-7,577,515 View the variant detail on this assembly version.
hg38	chr17:7,674,197-7,674,197

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.766A>G	NP_000537.3:p.Thr256Ala
	NM_001126112.2:c.766A>G	NP_001119584.1:p.Thr256Ala
	NM_001276760.1:c.766A>G	NP_001263689.1:p.Thr256Ala
	NM_001276761.1:c.766A>G	NP_001263690.1:p.Thr256Ala
	NM_001126113.2:c.766A>G	NP_001119585.1:p.Thr256Ala
	NM_001276695.1:c.766A>G	NP_001263624.1:p.Thr256Ala
	NM_001126116.1:c.370A>G	NP_001119588.1:p.Thr124Ala
	NM_001276698.1:c.370A>G	NP_001263627.1:p.Thr124Ala
	NM_001126118.1:c.649A>G	NP_001119590.1:p.Thr217Ala
	NM_001126117.1:c.289A>G	NP_001119589.1:p.Thr97Ala
	NM_001276699.1:c.289A>G	NP_001263628.1:p.Thr97Ala
	NM_001126115.1:c.289A>G	NP_001119587.1:p.Thr97Ala
	NM_001276697.1:c.289A>G	NP_001263626.1:p.Thr97Ala
	NM_001276696.1:c.649A>G	NP_001263625.1:p.Thr217Ala
Ensemble	ENST00000269305.9:c.766A>G	ENST00000269305.9:p.Thr256Ala
	ENST00000359597.8:c.766A>G	ENST00000359597.8:p.Thr256Ala
	ENST00000413465.6:c.766A>G	ENST00000413465.6:p.Thr256Ala
	ENST00000420246.6:c.766A>G	ENST00000420246.6:p.Thr256Ala
	ENST00000445888.6:c.766A>G	ENST00000445888.6:p.Thr256Ala
	ENST00000504290.5:c.370A>G	ENST00000504290.5:p.Thr124Ala
	ENST00000455263.6:c.766A>G	ENST00000455263.6:p.Thr256Ala
	ENST00000504937.5:c.370A>G	ENST00000504937.5:p.Thr124Ala
	ENST00000510385.5:c.370A>G	ENST00000510385.5:p.Thr124Ala
	ENST00000576024.2:c.766A>G	ENST00000576024.2:p.Thr256Ala
	ENST00000604348.6:c.745A>G	ENST00000604348.6:p.Thr249Ala
	ENST00000610292.4:c.649A>G	ENST00000610292.4:p.Thr217Ala
	ENST00000610538.4:c.649A>G	ENST00000610538.4:p.Thr217Ala
	ENST00000610623.4:c.289A>G	ENST00000610623.4:p.Thr97Ala
	ENST00000618944.4:c.289A>G	ENST00000618944.4:p.Thr97Ala
	ENST00000619186.4:c.289A>G	ENST00000619186.4:p.Thr97Ala
	ENST00000619485.4:c.649A>G	ENST00000619485.4:p.Thr217Ala
	ENST00000620739.4:c.649A>G	ENST00000620739.4:p.Thr217Ala
	ENST00000622645.4:c.649A>G	ENST00000622645.4:p.Thr217Ala
	ENST00000714356.1:c.649A>G	ENST00000714356.1:p.Thr217Ala
	ENST00000714357.1:c.766A>G	ENST00000714357.1:p.Thr256Ala
	ENST00000714359.1:c.766A>G	ENST00000714359.1:p.Thr256Ala
	ENST00000714408.1:c.766A>G	ENST00000714408.1:p.Thr256Ala
	ENST00000714409.1:c.766A>G	ENST00000714409.1:p.Thr256Ala

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	COSM6903961	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-01-04	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2014-10-30	criteria provided, single submitter	Li-Fraumeni syndrome 1	germline	Detail
Uncertain significance	2023-04-14	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
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.766A>G (p.Thr256Ala) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.766A>G (p.Thr256Ala) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.766A>G (p.Thr256Ala) AND Li-Fraumeni syndrome	ClinVar	Detail
NA	DisGeNET	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: rs587781433 dbSNP
Genome: hg38
Position: chr17:7,674,197-7,674,197
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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