chr17:7675157:G>A 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	chr17:7,578,475-7,578,475 View the variant detail on this assembly version.
hg38	chr17:7,675,157-7,675,157

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.455C>T	NP_000537.3:p.Pro152Leu
	NM_001126112.2:c.455C>T	NP_001119584.1:p.Pro152Leu
	NM_001276760.1:c.455C>T	NP_001263689.1:p.Pro152Leu
	NM_001276761.1:c.455C>T	NP_001263690.1:p.Pro152Leu
	NM_001126113.2:c.455C>T	NP_001119585.1:p.Pro152Leu
	NM_001276695.1:c.455C>T	NP_001263624.1:p.Pro152Leu
	NM_001126116.1:c.59C>T	NP_001119588.1:p.Pro20Leu
	NM_001276698.1:c.59C>T	NP_001263627.1:p.Pro20Leu
	NM_001126118.1:c.338C>T	NP_001119590.1:p.Pro113Leu
	NM_001126117.1:c.-23C>T
	NM_001276699.1:c.-23C>T
	NM_001126115.1:c.-23C>T
	NM_001276697.1:c.-23C>T
	NM_001276696.1:c.338C>T	NP_001263625.1:p.Pro113Leu
Ensemble	ENST00000618944.4:c.-23C>T
	ENST00000269305.9:c.455C>T	ENST00000269305.9:p.Pro152Leu
	ENST00000359597.8:c.455C>T	ENST00000359597.8:p.Pro152Leu
	ENST00000413465.6:c.455C>T	ENST00000413465.6:p.Pro152Leu
	ENST00000420246.6:c.455C>T	ENST00000420246.6:p.Pro152Leu
	ENST00000445888.6:c.455C>T	ENST00000445888.6:p.Pro152Leu
	ENST00000455263.6:c.455C>T	ENST00000455263.6:p.Pro152Leu
	ENST00000504290.5:c.59C>T	ENST00000504290.5:p.Pro20Leu
	ENST00000504937.5:c.59C>T	ENST00000504937.5:p.Pro20Leu
	ENST00000510385.5:c.59C>T	ENST00000510385.5:p.Pro20Leu
	ENST00000576024.2:c.455C>T	ENST00000576024.2:p.Pro152Leu
	ENST00000604348.6:c.434C>T	ENST00000604348.6:p.Pro145Leu
	ENST00000610292.4:c.338C>T	ENST00000610292.4:p.Pro113Leu
	ENST00000610538.4:c.338C>T	ENST00000610538.4:p.Pro113Leu
	ENST00000610623.4:c.-23C>T
	ENST00000619186.4:c.-23C>T
	ENST00000619485.4:c.338C>T	ENST00000619485.4:p.Pro113Leu
	ENST00000620739.4:c.338C>T	ENST00000620739.4:p.Pro113Leu
	ENST00000622645.4:c.338C>T	ENST00000622645.4:p.Pro113Leu
	ENST00000714356.1:c.338C>T	ENST00000714356.1:p.Pro113Leu
	ENST00000714357.1:c.455C>T	ENST00000714357.1:p.Pro152Leu
	ENST00000714359.1:c.455C>T	ENST00000714359.1:p.Pro152Leu
	ENST00000714408.1:c.455C>T	ENST00000714408.1:p.Pro152Leu
	ENST00000714409.1:c.455C>T	ENST00000714409.1:p.Pro152Leu

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	Pathogenic
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	COSM3717667	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-03-06	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2019-08-28	reviewed by expert panel	Li-Fraumeni syndrome	germline	Detail
Pathogenic		no assertion criteria provided	not provided	unknown	Detail
Pathogenic Likely pathogenic	2024-02-14	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome 1	unknown	Detail
Pathogenic	2018-11-21	criteria provided, single submitter	Familial cancer of breast	unknown	Detail
Pathogenic	2019-04-30	no assertion criteria provided	Lip and oral cavity carcinoma	somatic	Detail
Pathogenic		criteria provided, single submitter	Squamous cell carcinoma of the head and neck	somatic	Detail
Pathogenic	2023-10-19	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.455C>T (p.Pro152Leu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) AND Familial cancer of breast	ClinVar	Detail
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) AND Lip and oral cavity carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) 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: rs587782705 dbSNP
Genome: hg38
Position: chr17:7,675,157-7,675,157
Variant Type: snv
Reference Allele: G
Alternative Allele: A
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): 121174
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.3010381765065115E-5

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