chr17:7675070:C>T Detail (hg38) (TP53)

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

Information

Genome

Assembly	Position
hg19	chr17:7,578,388-7,578,388 View the variant detail on this assembly version.
hg38	chr17:7,675,070-7,675,070

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.542G>A	NP_000537.3:p.Arg181His
	NM_001126112.2:c.542G>A	NP_001119584.1:p.Arg181His
	NM_001276760.1:c.542G>A	NP_001263689.1:p.Arg181His
	NM_001276761.1:c.542G>A	NP_001263690.1:p.Arg181His
	NM_001126113.2:c.542G>A	NP_001119585.1:p.Arg181His
	NM_001276695.1:c.542G>A	NP_001263624.1:p.Arg181His
	NM_001126116.1:c.146G>A	NP_001119588.1:p.Arg49His
	NM_001276698.1:c.146G>A	NP_001263627.1:p.Arg49His
	NM_001126118.1:c.425G>A	NP_001119590.1:p.Arg142His
	NM_001126117.1:c.65G>A	NP_001119589.1:p.Arg22His
	NM_001276699.1:c.65G>A	NP_001263628.1:p.Arg22His
	NM_001126115.1:c.65G>A	NP_001119587.1:p.Arg22His
	NM_001276697.1:c.65G>A	NP_001263626.1:p.Arg22His
	NM_001276696.1:c.425G>A	NP_001263625.1:p.Arg142His
Ensemble	ENST00000269305.9:c.542G>A	ENST00000269305.9:p.Arg181His
	ENST00000359597.8:c.542G>A	ENST00000359597.8:p.Arg181His
	ENST00000413465.6:c.542G>A	ENST00000413465.6:p.Arg181His
	ENST00000420246.6:c.542G>A	ENST00000420246.6:p.Arg181His
	ENST00000445888.6:c.542G>A	ENST00000445888.6:p.Arg181His
	ENST00000455263.6:c.542G>A	ENST00000455263.6:p.Arg181His
	ENST00000714357.1:c.542G>A	ENST00000714357.1:p.Arg181His
	ENST00000504290.5:c.146G>A	ENST00000504290.5:p.Arg49His
	ENST00000504937.5:c.146G>A	ENST00000504937.5:p.Arg49His
	ENST00000510385.5:c.146G>A	ENST00000510385.5:p.Arg49His
	ENST00000576024.2:c.542G>A	ENST00000576024.2:p.Arg181His
	ENST00000604348.6:c.521G>A	ENST00000604348.6:p.Arg174His
	ENST00000610292.4:c.425G>A	ENST00000610292.4:p.Arg142His
	ENST00000610538.4:c.425G>A	ENST00000610538.4:p.Arg142His
	ENST00000610623.4:c.65G>A	ENST00000610623.4:p.Arg22His
	ENST00000618944.4:c.65G>A	ENST00000618944.4:p.Arg22His
	ENST00000619186.4:c.65G>A	ENST00000619186.4:p.Arg22His
	ENST00000619485.4:c.425G>A	ENST00000619485.4:p.Arg142His
	ENST00000620739.4:c.425G>A	ENST00000620739.4:p.Arg142His
	ENST00000622645.4:c.425G>A	ENST00000622645.4:p.Arg142His
	ENST00000714356.1:c.425G>A	ENST00000714356.1:p.Arg142His
	ENST00000714359.1:c.542G>A	ENST00000714359.1:p.Arg181His
	ENST00000714408.1:c.542G>A	ENST00000714408.1:p.Arg181His
	ENST00000714409.1:c.542G>A	ENST00000714409.1:p.Arg181His

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	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	tgv229158694	TogoVar
	COSMIC	COSM1386798	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2023-07-28	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2024-01-25	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome	germline	Detail
Pathogenic Likely pathogenic	2023-08-15	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic Likely pathogenic	2023-09-08	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome 1	germline unknown	Detail
Likely pathogenic	2019-05-28	criteria provided, single submitter	Squamous cell carcinoma of the head and neck	unknown	Detail
Likely pathogenic	2021-03-04	no assertion criteria provided	Carcinoma of pancreas	germline	Detail
Pathogenic	2021-03-19	no assertion criteria provided	Familial cancer of breast	somatic	Detail
Likely pathogenic	2023-09-10	criteria provided, single submitter	Adrenocortical carcinoma, hereditary	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR	Detail
0.369	Li-Fraumeni syndrome	NA	CLINVAR	Detail
0.120	Glioma susceptibility 1	NA	CLINVAR	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Carcinoma of pancreas	ClinVar	Detail
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Familial cancer of breast	ClinVar	Detail
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Adrenocortical carcinoma, hereditary	ClinVar	Detail
NA	DisGeNET	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: rs397514495 dbSNP
Genome: hg38
Position: chr17:7,675,070-7,675,070
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8652
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): 121316
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6485871608031917E-5

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