chr17:7673820: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	chr17:7,577,138-7,577,138 View the variant detail on this assembly version.
hg38	chr17:7,673,820-7,673,820

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.800G>A	NP_000537.3:p.Arg267Gln
	NM_001126112.2:c.800G>A	NP_001119584.1:p.Arg267Gln
	NM_001276760.1:c.800G>A	NP_001263689.1:p.Arg267Gln
	NM_001276761.1:c.800G>A	NP_001263690.1:p.Arg267Gln
	NM_001126113.2:c.800G>A	NP_001119585.1:p.Arg267Gln
	NM_001276695.1:c.800G>A	NP_001263624.1:p.Arg267Gln
	NM_001126116.1:c.404G>A	NP_001119588.1:p.Arg135Gln
	NM_001276698.1:c.404G>A	NP_001263627.1:p.Arg135Gln
	NM_001126118.1:c.683G>A	NP_001119590.1:p.Arg228Gln
	NM_001126117.1:c.323G>A	NP_001119589.1:p.Arg108Gln
	NM_001276699.1:c.323G>A	NP_001263628.1:p.Arg108Gln
	NM_001126115.1:c.323G>A	NP_001119587.1:p.Arg108Gln
	NM_001276697.1:c.323G>A	NP_001263626.1:p.Arg108Gln
	NM_001276696.1:c.683G>A	NP_001263625.1:p.Arg228Gln
Ensemble	ENST00000359597.8:c.800G>A	ENST00000359597.8:p.Arg267Gln
	ENST00000610538.4:c.683G>A	ENST00000610538.4:p.Arg228Gln
	ENST00000269305.9:c.800G>A	ENST00000269305.9:p.Arg267Gln
	ENST00000413465.6:c.782+361G>A
	ENST00000420246.6:c.800G>A	ENST00000420246.6:p.Arg267Gln
	ENST00000445888.6:c.800G>A	ENST00000445888.6:p.Arg267Gln
	ENST00000455263.6:c.800G>A	ENST00000455263.6:p.Arg267Gln
	ENST00000504290.5:c.404G>A	ENST00000504290.5:p.Arg135Gln
	ENST00000504937.5:c.404G>A	ENST00000504937.5:p.Arg135Gln
	ENST00000510385.5:c.404G>A	ENST00000510385.5:p.Arg135Gln
	ENST00000576024.2:c.800G>A	ENST00000576024.2:p.Arg267Gln
	ENST00000604348.6:c.779G>A	ENST00000604348.6:p.Arg260Gln
	ENST00000610292.4:c.683G>A	ENST00000610292.4:p.Arg228Gln
	ENST00000610623.4:c.323G>A	ENST00000610623.4:p.Arg108Gln
	ENST00000618944.4:c.323G>A	ENST00000618944.4:p.Arg108Gln
	ENST00000619186.4:c.323G>A	ENST00000619186.4:p.Arg108Gln
	ENST00000619485.4:c.683G>A	ENST00000619485.4:p.Arg228Gln
	ENST00000620739.4:c.683G>A	ENST00000620739.4:p.Arg228Gln
	ENST00000622645.4:c.683G>A	ENST00000622645.4:p.Arg228Gln
	ENST00000714356.1:c.683G>A	ENST00000714356.1:p.Arg228Gln
	ENST00000714357.1:c.800G>A	ENST00000714357.1:p.Arg267Gln
	ENST00000714359.1:c.800G>A	ENST00000714359.1:p.Arg267Gln
	ENST00000714408.1:c.800G>A	ENST00000714408.1:p.Arg267Gln
	ENST00000714409.1:c.800G>A	ENST00000714409.1:p.Arg267Gln

Summary

MGeND

Clinical significance	Uncertain significance
Variant entry	1
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	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	tgv229158640	TogoVar
	COSMIC	COSM3691864	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Uncertain significance		colorectal neoplasms, hereditary nonpolyposis	somatic	MGS000043 (TMGS000096)	Kohei Miyazono	Tokyo University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2024-01-04	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2020-08-11	reviewed by expert panel	Li-Fraumeni syndrome	germline	Detail
Uncertain significance	2016-02-18	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2023-04-11	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome 1	germline unknown	Detail
Uncertain significance		no assertion criteria provided		unknown	Detail
Uncertain significance	2021-03-22	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.800G>A (p.Arg267Gln) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.800G>A (p.Arg267Gln) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.800G>A (p.Arg267Gln) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.800G>A (p.Arg267Gln) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.800G>A (p.Arg267Gln) AND Malignant tumor of breast	ClinVar	Detail
NM_000546.6(TP53):c.800G>A (p.Arg267Gln) AND not specified	ClinVar	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: rs587780075 dbSNP
Genome: hg38
Position: chr17:7,673,820-7,673,820
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 7036
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): 101258
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): 1.9751525805368464E-5

Genome browser

chr17:7673820:C>T Detail (hg38) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript