chr17:7673790: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	chr17:7,577,108-7,577,108 View the variant detail on this assembly version.
hg38	chr17:7,673,790-7,673,790

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.830G>A	NP_000537.3:p.Cys277Tyr
	NM_001126112.2:c.830G>A	NP_001119584.1:p.Cys277Tyr
	NM_001276760.1:c.830G>A	NP_001263689.1:p.Cys277Tyr
	NM_001276761.1:c.830G>A	NP_001263690.1:p.Cys277Tyr
	NM_001126113.2:c.830G>A	NP_001119585.1:p.Cys277Tyr
	NM_001276695.1:c.830G>A	NP_001263624.1:p.Cys277Tyr
	NM_001126116.1:c.434G>A	NP_001119588.1:p.Cys145Tyr
	NM_001276698.1:c.434G>A	NP_001263627.1:p.Cys145Tyr
	NM_001126118.1:c.713G>A	NP_001119590.1:p.Cys238Tyr
	NM_001126117.1:c.353G>A	NP_001119589.1:p.Cys118Tyr
	NM_001276699.1:c.353G>A	NP_001263628.1:p.Cys118Tyr
	NM_001126115.1:c.353G>A	NP_001119587.1:p.Cys118Tyr
	NM_001276697.1:c.353G>A	NP_001263626.1:p.Cys118Tyr
	NM_001276696.1:c.713G>A	NP_001263625.1:p.Cys238Tyr
Ensemble	ENST00000269305.9:c.830G>A	ENST00000269305.9:p.Cys277Tyr
	ENST00000359597.8:c.830G>A	ENST00000359597.8:p.Cys277Tyr
	ENST00000413465.6:c.782+391G>A
	ENST00000420246.6:c.830G>A	ENST00000420246.6:p.Cys277Tyr
	ENST00000445888.6:c.830G>A	ENST00000445888.6:p.Cys277Tyr
	ENST00000455263.6:c.830G>A	ENST00000455263.6:p.Cys277Tyr
	ENST00000504290.5:c.434G>A	ENST00000504290.5:p.Cys145Tyr
	ENST00000504937.5:c.434G>A	ENST00000504937.5:p.Cys145Tyr
	ENST00000510385.5:c.434G>A	ENST00000510385.5:p.Cys145Tyr
	ENST00000576024.2:c.830G>A	ENST00000576024.2:p.Cys277Tyr
	ENST00000604348.6:c.809G>A	ENST00000604348.6:p.Cys270Tyr
	ENST00000610292.4:c.713G>A	ENST00000610292.4:p.Cys238Tyr
	ENST00000610538.4:c.713G>A	ENST00000610538.4:p.Cys238Tyr
	ENST00000610623.4:c.353G>A	ENST00000610623.4:p.Cys118Tyr
	ENST00000618944.4:c.353G>A	ENST00000618944.4:p.Cys118Tyr
	ENST00000619186.4:c.353G>A	ENST00000619186.4:p.Cys118Tyr
	ENST00000619485.4:c.713G>A	ENST00000619485.4:p.Cys238Tyr
	ENST00000620739.4:c.713G>A	ENST00000620739.4:p.Cys238Tyr
	ENST00000622645.4:c.713G>A	ENST00000622645.4:p.Cys238Tyr
	ENST00000714356.1:c.713G>A	ENST00000714356.1:p.Cys238Tyr
	ENST00000714357.1:c.830G>A	ENST00000714357.1:p.Cys277Tyr
	ENST00000714359.1:c.830G>A	ENST00000714359.1:p.Cys277Tyr
	ENST00000714408.1:c.830G>A	ENST00000714408.1:p.Cys277Tyr
	ENST00000714409.1:c.830G>A	ENST00000714409.1:p.Cys277Tyr

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
	COSMIC	COSM6191225	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2023-10-19	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2023-08-04	criteria provided, conflicting interpretations	not provided	germline unknown	Detail
Likely pathogenic	2023-12-12	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Uncertain significance		no assertion criteria provided		unknown	Detail
Likely pathogenic	2021-04-30	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

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) AND Malignant tumor of breast	ClinVar	Detail
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) AND Adrenocortical carcinoma, hereditary	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: rs763098116 dbSNP
Genome: hg38
Position: chr17:7,673,790-7,673,790
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8404
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): 117922
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.480181815098116E-6

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