chr17:7673788:G>C 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	chr17:7,577,106-7,577,106 View the variant detail on this assembly version.
hg38	chr17:7,673,788-7,673,788

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.832C>G	NP_000537.3:p.Pro278Ala
	NM_001126112.2:c.832C>G	NP_001119584.1:p.Pro278Ala
	NM_001276760.1:c.832C>G	NP_001263689.1:p.Pro278Ala
	NM_001276761.1:c.832C>G	NP_001263690.1:p.Pro278Ala
	NM_001126113.2:c.832C>G	NP_001119585.1:p.Pro278Ala
	NM_001276695.1:c.832C>G	NP_001263624.1:p.Pro278Ala
	NM_001126116.1:c.436C>G	NP_001119588.1:p.Pro146Ala
	NM_001276698.1:c.436C>G	NP_001263627.1:p.Pro146Ala
	NM_001126118.1:c.715C>G	NP_001119590.1:p.Pro239Ala
	NM_001126117.1:c.355C>G	NP_001119589.1:p.Pro119Ala
	NM_001276699.1:c.355C>G	NP_001263628.1:p.Pro119Ala
	NM_001126115.1:c.355C>G	NP_001119587.1:p.Pro119Ala
	NM_001276697.1:c.355C>G	NP_001263626.1:p.Pro119Ala
	NM_001276696.1:c.715C>G	NP_001263625.1:p.Pro239Ala
Ensemble	ENST00000269305.9:c.832C>G	ENST00000269305.9:p.Pro278Ala
	ENST00000359597.8:c.832C>G	ENST00000359597.8:p.Pro278Ala
	ENST00000413465.6:c.782+393C>G
	ENST00000420246.6:c.832C>G	ENST00000420246.6:p.Pro278Ala
	ENST00000445888.6:c.832C>G	ENST00000445888.6:p.Pro278Ala
	ENST00000618944.4:c.355C>G	ENST00000618944.4:p.Pro119Ala
	ENST00000455263.6:c.832C>G	ENST00000455263.6:p.Pro278Ala
	ENST00000504290.5:c.436C>G	ENST00000504290.5:p.Pro146Ala
	ENST00000504937.5:c.436C>G	ENST00000504937.5:p.Pro146Ala
	ENST00000510385.5:c.436C>G	ENST00000510385.5:p.Pro146Ala
	ENST00000576024.2:c.832C>G	ENST00000576024.2:p.Pro278Ala
	ENST00000604348.6:c.811C>G	ENST00000604348.6:p.Pro271Ala
	ENST00000610292.4:c.715C>G	ENST00000610292.4:p.Pro239Ala
	ENST00000610538.4:c.715C>G	ENST00000610538.4:p.Pro239Ala
	ENST00000610623.4:c.355C>G	ENST00000610623.4:p.Pro119Ala
	ENST00000619186.4:c.355C>G	ENST00000619186.4:p.Pro119Ala
	ENST00000619485.4:c.715C>G	ENST00000619485.4:p.Pro239Ala
	ENST00000620739.4:c.715C>G	ENST00000620739.4:p.Pro239Ala
	ENST00000622645.4:c.715C>G	ENST00000622645.4:p.Pro239Ala
	ENST00000714356.1:c.715C>G	ENST00000714356.1:p.Pro239Ala
	ENST00000714357.1:c.832C>G	ENST00000714357.1:p.Pro278Ala
	ENST00000714359.1:c.832C>G	ENST00000714359.1:p.Pro278Ala
	ENST00000714408.1:c.832C>G	ENST00000714408.1:p.Pro278Ala
	ENST00000714409.1:c.832C>G	ENST00000714409.1:p.Pro278Ala

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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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	COSM3717626	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		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 lung carcinoma	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	Squamous cell carcinoma of the head and neck	somatic	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	ovarian serous cystadenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	multiple myeloma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung 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	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	somatic	Detail
Likely pathogenic	2019-01-22	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2023-07-06	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Pathogenic	2020-01-06	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2024-02-20	criteria provided, single submitter	Li-Fraumeni syndrome 1	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.353	Mammary Neoplasms	We have predicted three deleterious coding non-synonymous single nucleotide poly...	BeFree	25105660	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Squamous cell carcinoma of the skin	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Malignant melanoma of skin	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Multiple myeloma	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) AND Li-Fraumeni syndrome 1	ClinVar	Detail
We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654...	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: rs17849781 dbSNP
Genome: hg38
Position: chr17:7,673,788-7,673,788
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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