chr17:7673806: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	chr17:7,577,124-7,577,124 View the variant detail on this assembly version.
hg38	chr17:7,673,806-7,673,806

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.814G>A	NP_000537.3:p.Val272Met
	NM_001126112.2:c.814G>A	NP_001119584.1:p.Val272Met
	NM_001276760.1:c.814G>A	NP_001263689.1:p.Val272Met
	NM_001276761.1:c.814G>A	NP_001263690.1:p.Val272Met
	NM_001126113.2:c.814G>A	NP_001119585.1:p.Val272Met
	NM_001276695.1:c.814G>A	NP_001263624.1:p.Val272Met
	NM_001126116.1:c.418G>A	NP_001119588.1:p.Val140Met
	NM_001276698.1:c.418G>A	NP_001263627.1:p.Val140Met
	NM_001126118.1:c.697G>A	NP_001119590.1:p.Val233Met
	NM_001126117.1:c.337G>A	NP_001119589.1:p.Val113Met
	NM_001276699.1:c.337G>A	NP_001263628.1:p.Val113Met
	NM_001126115.1:c.337G>A	NP_001119587.1:p.Val113Met
	NM_001276697.1:c.337G>A	NP_001263626.1:p.Val113Met
	NM_001276696.1:c.697G>A	NP_001263625.1:p.Val233Met
Ensemble	ENST00000269305.9:c.814G>A	ENST00000269305.9:p.Val272Met
	ENST00000359597.8:c.814G>A	ENST00000359597.8:p.Val272Met
	ENST00000413465.6:c.782+375G>A
	ENST00000420246.6:c.814G>A	ENST00000420246.6:p.Val272Met
	ENST00000445888.6:c.814G>A	ENST00000445888.6:p.Val272Met
	ENST00000455263.6:c.814G>A	ENST00000455263.6:p.Val272Met
	ENST00000504290.5:c.418G>A	ENST00000504290.5:p.Val140Met
	ENST00000504937.5:c.418G>A	ENST00000504937.5:p.Val140Met
	ENST00000510385.5:c.418G>A	ENST00000510385.5:p.Val140Met
	ENST00000576024.2:c.814G>A	ENST00000576024.2:p.Val272Met
	ENST00000604348.6:c.793G>A	ENST00000604348.6:p.Val265Met
	ENST00000610292.4:c.697G>A	ENST00000610292.4:p.Val233Met
	ENST00000610538.4:c.697G>A	ENST00000610538.4:p.Val233Met
	ENST00000610623.4:c.337G>A	ENST00000610623.4:p.Val113Met
	ENST00000618944.4:c.337G>A	ENST00000618944.4:p.Val113Met
	ENST00000619186.4:c.337G>A	ENST00000619186.4:p.Val113Met
	ENST00000619485.4:c.697G>A	ENST00000619485.4:p.Val233Met
	ENST00000620739.4:c.697G>A	ENST00000620739.4:p.Val233Met
	ENST00000622645.4:c.697G>A	ENST00000622645.4:p.Val233Met
	ENST00000714356.1:c.697G>A	ENST00000714356.1:p.Val233Met
	ENST00000714357.1:c.814G>A	ENST00000714357.1:p.Val272Met
	ENST00000714359.1:c.814G>A	ENST00000714359.1:p.Val272Met
	ENST00000714408.1:c.814G>A	ENST00000714408.1:p.Val272Met
	ENST00000714409.1:c.814G>A	ENST00000714409.1:p.Val272Met

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	COSM3388172	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-10	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Papillary renal cell carcinoma type 1	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	ovarian serous cystadenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell carcinoma of the head and neck	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant neoplasm of body of uterus	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	medulloblastoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	multiple myeloma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Pathogenic Likely pathogenic	2023-10-24	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Pathogenic	2022-03-18	reviewed by expert panel	Li-Fraumeni syndrome 1	germline unknown	Detail
Pathogenic	2023-04-11	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.441	Li-Fraumeni syndrome 1	NA	CLINVAR		Detail
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Papillary renal cell carcinoma type 1	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Squamous cell carcinoma of the skin	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Medulloblastoma	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Multiple myeloma	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND not provided	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: rs121912657 dbSNP
Genome: hg38
Position: chr17:7,673,806-7,673,806
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 7890
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): 111820
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): 2.6828832051511357E-5

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