chr17:7675143:C>T Detail (hg38) (TP53)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:7,578,461-7,578,461 View the variant detail on this assembly version.
hg38	chr17:7,675,143-7,675,143

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.469G>A	NP_000537.3:p.Val157Ile
	NM_001126112.2:c.469G>A	NP_001119584.1:p.Val157Ile
	NM_001276760.1:c.469G>A	NP_001263689.1:p.Val157Ile
	NM_001276761.1:c.469G>A	NP_001263690.1:p.Val157Ile
	NM_001126113.2:c.469G>A	NP_001119585.1:p.Val157Ile
	NM_001276695.1:c.469G>A	NP_001263624.1:p.Val157Ile
	NM_001126116.1:c.73G>A	NP_001119588.1:p.Val25Ile
	NM_001276698.1:c.73G>A	NP_001263627.1:p.Val25Ile
	NM_001126118.1:c.352G>A	NP_001119590.1:p.Val118Ile
	NM_001126117.1:c.-9G>A
	NM_001276699.1:c.-9G>A
	NM_001126115.1:c.-9G>A
	NM_001276697.1:c.-9G>A
	NM_001276696.1:c.352G>A	NP_001263625.1:p.Val118Ile
Ensemble	ENST00000269305.9:c.469G>A	ENST00000269305.9:p.Val157Ile
	ENST00000359597.8:c.469G>A	ENST00000359597.8:p.Val157Ile
	ENST00000413465.6:c.469G>A	ENST00000413465.6:p.Val157Ile
	ENST00000420246.6:c.469G>A	ENST00000420246.6:p.Val157Ile
	ENST00000445888.6:c.469G>A	ENST00000445888.6:p.Val157Ile
	ENST00000455263.6:c.469G>A	ENST00000455263.6:p.Val157Ile
	ENST00000504290.5:c.73G>A	ENST00000504290.5:p.Val25Ile
	ENST00000504937.5:c.73G>A	ENST00000504937.5:p.Val25Ile
	ENST00000510385.5:c.73G>A	ENST00000510385.5:p.Val25Ile
	ENST00000576024.2:c.469G>A	ENST00000576024.2:p.Val157Ile
	ENST00000604348.6:c.448G>A	ENST00000604348.6:p.Val150Ile
	ENST00000610292.4:c.352G>A	ENST00000610292.4:p.Val118Ile
	ENST00000610538.4:c.352G>A	ENST00000610538.4:p.Val118Ile
	ENST00000610623.4:c.-9G>A
	ENST00000618944.4:c.-9G>A
	ENST00000619186.4:c.-9G>A
	ENST00000619485.4:c.352G>A	ENST00000619485.4:p.Val118Ile
	ENST00000620739.4:c.352G>A	ENST00000620739.4:p.Val118Ile
	ENST00000622645.4:c.352G>A	ENST00000622645.4:p.Val118Ile
	ENST00000714356.1:c.352G>A	ENST00000714356.1:p.Val118Ile
	ENST00000714357.1:c.469G>A	ENST00000714357.1:p.Val157Ile
	ENST00000714359.1:c.469G>A	ENST00000714359.1:p.Val157Ile
	ENST00000714408.1:c.469G>A	ENST00000714408.1:p.Val157Ile
	ENST00000714409.1:c.469G>A	ENST00000714409.1:p.Val157Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Likely benign
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	COSM5879589	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2023-08-29	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2022-10-21	criteria provided, conflicting interpretations	not provided	germline unknown	Detail
Conflicting interpretations of pathogenicity	2024-02-05	criteria provided, conflicting interpretations	Li-Fraumeni syndrome	germline	Detail
Likely benign	2020-08-26	reviewed by expert panel	Li-Fraumeni syndrome 1	germline	Detail
Likely benign	2022-01-17	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.382	osteosarcoma	Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H,...	BeFree	16778209	Detail
0.031	Osteosarcoma of bone	Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H,...	BeFree	16778209	Detail
0.511	liver carcinoma	NA	CLINVAR		Detail
0.003	squamous cell carcinoma	Previous analyses of p53 in 40 HLA-A*0201(HLA-A2)(+) squamous cell carcinomas of...	BeFree	17294448	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.469G>A (p.Val157Ile) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.469G>A (p.Val157Ile) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.469G>A (p.Val157Ile) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.469G>A (p.Val157Ile) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.469G>A (p.Val157Ile) AND not specified	ClinVar	Detail
Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were es...	DisGeNET	Detail
Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were es...	DisGeNET	Detail
NA	DisGeNET	Detail
Previous analyses of p53 in 40 HLA-A*0201(HLA-A2)(+) squamous cell carcinomas of the head and neck (...	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: rs121912654 dbSNP
Genome: hg38
Position: chr17:7,675,143-7,675,143
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121198
Allele Counts in All Race (ExAC): 7
Heterozygous Counts in All Race (ExAC): 7
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 5.775672865888876E-5

Genome browser