chr17:7675161:G>T Detail (hg38) (TP53)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr17:7,578,479-7,578,479 View the variant detail on this assembly version.
hg38	chr17:7,675,161-7,675,161

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.451C>A	NP_000537.3:p.Pro151Thr
	NM_001126112.2:c.451C>A	NP_001119584.1:p.Pro151Thr
	NM_001276760.1:c.451C>A	NP_001263689.1:p.Pro151Thr
	NM_001276761.1:c.451C>A	NP_001263690.1:p.Pro151Thr
	NM_001126113.2:c.451C>A	NP_001119585.1:p.Pro151Thr
	NM_001276695.1:c.451C>A	NP_001263624.1:p.Pro151Thr
	NM_001126116.1:c.55C>A	NP_001119588.1:p.Pro19Thr
	NM_001276698.1:c.55C>A	NP_001263627.1:p.Pro19Thr
	NM_001126118.1:c.334C>A	NP_001119590.1:p.Pro112Thr
	NM_001126117.1:c.-27C>A
	NM_001276699.1:c.-27C>A
	NM_001126115.1:c.-27C>A
	NM_001276697.1:c.-27C>A
	NM_001276696.1:c.334C>A	NP_001263625.1:p.Pro112Thr
Ensemble	ENST00000714357.1:c.451C>A	ENST00000714357.1:p.Pro151Thr
	ENST00000714359.1:c.451C>A	ENST00000714359.1:p.Pro151Thr
	ENST00000714408.1:c.451C>A	ENST00000714408.1:p.Pro151Thr
	ENST00000714409.1:c.451C>A	ENST00000714409.1:p.Pro151Thr
	ENST00000269305.9:c.451C>A	ENST00000269305.9:p.Pro151Thr
	ENST00000359597.8:c.451C>A	ENST00000359597.8:p.Pro151Thr
	ENST00000413465.6:c.451C>A	ENST00000413465.6:p.Pro151Thr
	ENST00000420246.6:c.451C>A	ENST00000420246.6:p.Pro151Thr
	ENST00000445888.6:c.451C>A	ENST00000445888.6:p.Pro151Thr
	ENST00000455263.6:c.451C>A	ENST00000455263.6:p.Pro151Thr
	ENST00000504290.5:c.55C>A	ENST00000504290.5:p.Pro19Thr
	ENST00000504937.5:c.55C>A	ENST00000504937.5:p.Pro19Thr
	ENST00000510385.5:c.55C>A	ENST00000510385.5:p.Pro19Thr
	ENST00000576024.2:c.451C>A	ENST00000576024.2:p.Pro151Thr
	ENST00000604348.6:c.430C>A	ENST00000604348.6:p.Pro144Thr
	ENST00000610292.4:c.334C>A	ENST00000610292.4:p.Pro112Thr
	ENST00000610538.4:c.334C>A	ENST00000610538.4:p.Pro112Thr
	ENST00000610623.4:c.-27C>A
	ENST00000618944.4:c.-27C>A
	ENST00000619186.4:c.-27C>A
	ENST00000619485.4:c.334C>A	ENST00000619485.4:p.Pro112Thr
	ENST00000620739.4:c.334C>A	ENST00000620739.4:p.Pro112Thr
	ENST00000622645.4:c.334C>A	ENST00000622645.4:p.Pro112Thr
	ENST00000714356.1:c.334C>A	ENST00000714356.1:p.Pro112Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	COSM4070056	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1993-07-01	no assertion criteria provided	breast adenocarcinoma	somatic	Detail
Pathogenic Likely pathogenic	2022-06-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant melanoma of skin	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell lung carcinoma	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	Carcinoma of esophagus	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	adenoid cystic carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of brain	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	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	multiple myeloma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	uterine carcinosarcoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant neoplasm of body of uterus	somatic	Detail
Pathogenic Likely pathogenic	2023-08-15	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-10-08	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Pathogenic	2020-09-01	no assertion criteria provided	rhabdomyosarcoma	germline	Detail
Likely pathogenic	2022-06-18	criteria provided, single submitter	Li-Fraumeni syndrome 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.353	Mammary Neoplasms	We have predicted three deleterious coding non-synonymous single nucleotide poly...	BeFree	25105660	Detail
0.441	Li-Fraumeni syndrome 1	p53 alterations in human squamous cell carcinomas and carcinoma cell lines.	UNIPROT	7682763	Detail
0.122	breast adenocarcinoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Breast adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Malignant melanoma of skin	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Adenoid cystic carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Multiple myeloma	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Uterine carcinosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Rhabdomyosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NA	DisGeNET	Detail
We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654...	DisGeNET	Detail
p53 alterations in human squamous cell carcinomas and carcinoma cell lines.	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: rs28934874 dbSNP
Genome: hg38
Position: chr17:7,675,161-7,675,161
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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