chr17:7670684: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	chr17:7,574,002-7,574,002 View the variant detail on this assembly version.
hg38	chr17:7,670,684-7,670,684

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.1025G>A	NP_000537.3:p.Arg342Gln
	NM_001126112.2:c.1025G>A	NP_001119584.1:p.Arg342Gln
	NM_001276760.1:c.1025G>A	NP_001263689.1:p.Arg342Gln
	NM_001276761.1:c.1025G>A	NP_001263690.1:p.Arg342Gln
	NM_001126115.1:c.548G>A	NP_001119587.1:p.Arg183Gln
	NM_001276697.1:c.548G>A	NP_001263626.1:p.Arg183Gln
	NM_001276696.1:c.*132G>A
	NM_001126113.2:c.*44G>A
	NM_001276695.1:c.*44G>A
	NM_001126116.1:c.*132G>A
	NM_001276698.1:c.*132G>A
	NM_001126118.1:c.908G>A	NP_001119590.1:p.Arg303Gln
	NM_001126117.1:c.*44G>A
	NM_001276699.1:c.*44G>A
Ensemble	ENST00000269305.9:c.1025G>A	ENST00000269305.9:p.Arg342Gln
	ENST00000359597.8:c.993+2851G>A
	ENST00000413465.6:c.782+3497G>A
	ENST00000618944.4:c.*132G>A
	ENST00000619186.4:c.548G>A	ENST00000619186.4:p.Arg183Gln
	ENST00000619485.4:c.908G>A	ENST00000619485.4:p.Arg303Gln
	ENST00000620739.4:c.908G>A	ENST00000620739.4:p.Arg303Gln
	ENST00000622645.4:c.*132G>A
	ENST00000714356.1:c.908G>A	ENST00000714356.1:p.Arg303Gln
	ENST00000714357.1:c.1025G>A	ENST00000714357.1:p.Arg342Gln
	ENST00000420246.6:c.*132G>A
	ENST00000445888.6:c.1025G>A	ENST00000445888.6:p.Arg342Gln
	ENST00000455263.6:c.*44G>A
	ENST00000504290.5:c.*44G>A
	ENST00000504937.5:c.629G>A	ENST00000504937.5:p.Arg210Gln
	ENST00000510385.5:c.*132G>A
	ENST00000576024.2:c.994-994G>A
	ENST00000604348.6:c.1004G>A	ENST00000604348.6:p.Arg335Gln
	ENST00000610292.4:c.908G>A	ENST00000610292.4:p.Arg303Gln
	ENST00000610538.4:c.*44G>A
	ENST00000610623.4:c.*44G>A
	ENST00000714359.1:c.1025G>A	ENST00000714359.1:p.Arg342Gln
	ENST00000714408.1:c.1025G>A	ENST00000714408.1:p.Arg342Gln
	ENST00000714409.1:c.1025G>A	ENST00000714409.1:p.Arg342Gln

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	COSM45278	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2021-09-24	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Likely benign	2021-03-31	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2023-11-30	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome	germline	Detail
Likely benign	2021-08-11	reviewed by expert panel	Li-Fraumeni syndrome 1	germline	Detail
Benign Likely benign	2023-08-22	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.369	Li-Fraumeni syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln) 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: rs375338359 dbSNP
Genome: hg38
Position: chr17:7,670,684-7,670,684
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8568
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): 118306
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): 2.5357970009974136E-5

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