chr17:7576872:C>A 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	chr17:7,576,872-7,576,872
hg38	chr17:7,673,554-7,673,554 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126117.1:c.497G>T	NP_001119589.1:p.Gly166Val
	NM_001276699.1:c.497G>T	NP_001263628.1:p.Gly166Val
	NM_001126115.1:c.497G>T	NP_001119587.1:p.Gly166Val
	NM_001276697.1:c.497G>T	NP_001263626.1:p.Gly166Val
	NM_001126113.2:c.974G>T	NP_001119585.1:p.Gly325Val
	NM_001276695.1:c.974G>T	NP_001263624.1:p.Gly325Val
	NM_001126116.1:c.578G>T	NP_001119588.1:p.Gly193Val
	NM_001276698.1:c.578G>T	NP_001263627.1:p.Gly193Val
	NM_000546.5:c.974G>T	NP_000537.3:p.Gly325Val
	NM_001126112.2:c.974G>T	NP_001119584.1:p.Gly325Val
	NM_001276760.1:c.974G>T	NP_001263689.1:p.Gly325Val
	NM_001276761.1:c.974G>T	NP_001263690.1:p.Gly325Val
	NM_001126118.1:c.857G>T	NP_001119590.1:p.Gly286Val
	NM_001276696.1:c.857G>T	NP_001263625.1:p.Gly286Val
Ensemble	ENST00000714408.1:c.974G>T	ENST00000714408.1:p.Gly325Val
	ENST00000576024.2:c.974G>T	ENST00000576024.2:p.Gly325Val
	ENST00000610623.4:c.497G>T	ENST00000610623.4:p.Gly166Val
	ENST00000504937.5:c.578G>T	ENST00000504937.5:p.Gly193Val
	ENST00000619186.4:c.497G>T	ENST00000619186.4:p.Gly166Val
	ENST00000619485.4:c.857G>T	ENST00000619485.4:p.Gly286Val
	ENST00000620739.4:c.857G>T	ENST00000620739.4:p.Gly286Val
	ENST00000455263.6:c.974G>T	ENST00000455263.6:p.Gly325Val
	ENST00000445888.6:c.974G>T	ENST00000445888.6:p.Gly325Val
	ENST00000510385.5:c.578G>T	ENST00000510385.5:p.Gly193Val
	ENST00000610538.4:c.857G>T	ENST00000610538.4:p.Gly286Val
	ENST00000269305.9:c.974G>T	ENST00000269305.9:p.Gly325Val
	ENST00000610292.4:c.857G>T	ENST00000610292.4:p.Gly286Val
	ENST00000413465.6:c.782+627G>T
	ENST00000714356.1:c.857G>T	ENST00000714356.1:p.Gly286Val
	ENST00000714359.1:c.974G>T	ENST00000714359.1:p.Gly325Val
	ENST00000714409.1:c.974G>T	ENST00000714409.1:p.Gly325Val
	ENST00000359597.8:c.974G>T	ENST00000359597.8:p.Gly325Val
	ENST00000420246.6:c.974G>T	ENST00000420246.6:p.Gly325Val
	ENST00000618944.4:c.497G>T	ENST00000618944.4:p.Gly166Val
	ENST00000714357.1:c.974G>T	ENST00000714357.1:p.Gly325Val
	ENST00000504290.5:c.578G>T	ENST00000504290.5:p.Gly193Val
	ENST00000604348.6:c.953G>T	ENST00000604348.6:p.Gly318Val
	ENST00000622645.4:c.857G>T	ENST00000622645.4:p.Gly286Val

Summary

MGeND

Clinical significance
Variant entry
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	COSM46030	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1992-05-14	no assertion criteria provided	non-Hodgkin lymphoma	germline	Detail
Pathogenic	1992-05-14	no assertion criteria provided	Familial colorectal cancer	germline	Detail
Uncertain significance	2023-07-26	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2024-02-01	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2021-04-27	criteria provided, conflicting interpretations	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.133	Lymphoma, Non-Hodgkin	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.974G>T (p.Gly325Val) AND Non-Hodgkin lymphoma	ClinVar	Detail
NM_000546.6(TP53):c.974G>T (p.Gly325Val) AND Familial colorectal cancer	ClinVar	Detail
NM_000546.6(TP53):c.974G>T (p.Gly325Val) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.974G>T (p.Gly325Val) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.974G>T (p.Gly325Val) AND not provided	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: rs121912659 dbSNP
Genome: hg19
Position: chr17:7,576,872-7,576,872
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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