chr17:7675145:C>T 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	chr17:7,578,463-7,578,463 View the variant detail on this assembly version.
hg38	chr17:7,675,145-7,675,145

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126117.1:c.-11G>A
	NM_001276699.1:c.-11G>A
	NM_001126115.1:c.-11G>A
	NM_001276697.1:c.-11G>A
	NM_000546.5:c.467G>A	NP_000537.3:p.Arg156His
	NM_001126112.2:c.467G>A	NP_001119584.1:p.Arg156His
	NM_001276760.1:c.467G>A	NP_001263689.1:p.Arg156His
	NM_001276761.1:c.467G>A	NP_001263690.1:p.Arg156His
	NM_001126113.2:c.467G>A	NP_001119585.1:p.Arg156His
	NM_001276695.1:c.467G>A	NP_001263624.1:p.Arg156His
	NM_001126116.1:c.71G>A	NP_001119588.1:p.Arg24His
	NM_001276698.1:c.71G>A	NP_001263627.1:p.Arg24His
	NM_001126118.1:c.350G>A	NP_001119590.1:p.Arg117His
	NM_001276696.1:c.350G>A	NP_001263625.1:p.Arg117His
Ensemble	ENST00000610623.4:c.-11G>A
	ENST00000618944.4:c.-11G>A
	ENST00000619186.4:c.-11G>A
	ENST00000269305.9:c.467G>A	ENST00000269305.9:p.Arg156His
	ENST00000359597.8:c.467G>A	ENST00000359597.8:p.Arg156His
	ENST00000413465.6:c.467G>A	ENST00000413465.6:p.Arg156His
	ENST00000420246.6:c.467G>A	ENST00000420246.6:p.Arg156His
	ENST00000445888.6:c.467G>A	ENST00000445888.6:p.Arg156His
	ENST00000455263.6:c.467G>A	ENST00000455263.6:p.Arg156His
	ENST00000504290.5:c.71G>A	ENST00000504290.5:p.Arg24His
	ENST00000504937.5:c.71G>A	ENST00000504937.5:p.Arg24His
	ENST00000510385.5:c.71G>A	ENST00000510385.5:p.Arg24His
	ENST00000576024.2:c.467G>A	ENST00000576024.2:p.Arg156His
	ENST00000604348.6:c.446G>A	ENST00000604348.6:p.Arg149His
	ENST00000610292.4:c.350G>A	ENST00000610292.4:p.Arg117His
	ENST00000610538.4:c.350G>A	ENST00000610538.4:p.Arg117His
	ENST00000619485.4:c.350G>A	ENST00000619485.4:p.Arg117His
	ENST00000620739.4:c.350G>A	ENST00000620739.4:p.Arg117His
	ENST00000622645.4:c.350G>A	ENST00000622645.4:p.Arg117His
	ENST00000714356.1:c.350G>A	ENST00000714356.1:p.Arg117His
	ENST00000714357.1:c.467G>A	ENST00000714357.1:p.Arg156His
	ENST00000714359.1:c.467G>A	ENST00000714359.1:p.Arg156His
	ENST00000714408.1:c.467G>A	ENST00000714408.1:p.Arg156His
	ENST00000714409.1:c.467G>A	ENST00000714409.1:p.Arg156His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

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

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	tgv56957460	TogoVar
	COSMIC	COSM3970369	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2024-04-16	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2024-01-11	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome	germline	Detail
Uncertain significance	2024-02-06	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Uncertain significance	2023-06-14	criteria provided, single submitter	not provided	germline	Detail
Conflicting interpretations of pathogenicity	2019-05-28	criteria provided, conflicting interpretations	Squamous cell carcinoma of the head and neck	somatic unknown	Detail
Uncertain significance	2019-05-01	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Uncertain significance	2021-02-22	reviewed by expert panel	Li-Fraumeni syndrome 1	germline	Detail
Uncertain significance	2020-06-16	criteria provided, single submitter	Familial cancer of breast	germline	Detail
Uncertain significance	2023-10-18	criteria provided, single submitter	Adrenocortical carcinoma, hereditary	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.369	Li-Fraumeni syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND not specified	ClinVar	Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Familial cancer of breast	ClinVar	Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Adrenocortical carcinoma, hereditary	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: rs371524413 dbSNP
Genome: hg38
Position: chr17:7,675,145-7,675,145
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Filtering Status (HGVD): PASS
Filtering Status (HGVD): LowQual
# of samples (HGVD): 1210
Mean of sample read depth (HGVD): 83.71
Standard deviation of sample read depth (HGVD): 38.72
Number of reference allele (HGVD): 2419
Number of alternative allele (HGVD): 1
Allele Frequency (HGVD): 4.1322314049586776E-4
Gene Symbol (HGVD): TP53
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): 121188
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.4754926230319832E-5

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