chr17:7673776: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	chr17:7,577,094-7,577,094 View the variant detail on this assembly version.
hg38	chr17:7,673,776-7,673,776

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.844C>G	NP_000537.3:p.Arg282Gly
	NM_001126112.2:c.844C>G	NP_001119584.1:p.Arg282Gly
	NM_001276760.1:c.844C>G	NP_001263689.1:p.Arg282Gly
	NM_001276761.1:c.844C>G	NP_001263690.1:p.Arg282Gly
	NM_001126113.2:c.844C>G	NP_001119585.1:p.Arg282Gly
	NM_001276695.1:c.844C>G	NP_001263624.1:p.Arg282Gly
	NM_001126116.1:c.448C>G	NP_001119588.1:p.Arg150Gly
	NM_001276698.1:c.448C>G	NP_001263627.1:p.Arg150Gly
	NM_001126118.1:c.727C>G	NP_001119590.1:p.Arg243Gly
	NM_001126117.1:c.367C>G	NP_001119589.1:p.Arg123Gly
	NM_001276699.1:c.367C>G	NP_001263628.1:p.Arg123Gly
	NM_001126115.1:c.367C>G	NP_001119587.1:p.Arg123Gly
	NM_001276697.1:c.367C>G	NP_001263626.1:p.Arg123Gly
	NM_001276696.1:c.727C>G	NP_001263625.1:p.Arg243Gly
Ensemble	ENST00000359597.8:c.844C>G	ENST00000359597.8:p.Arg282Gly
	ENST00000269305.9:c.844C>G	ENST00000269305.9:p.Arg282Gly
	ENST00000413465.6:c.782+405C>G
	ENST00000420246.6:c.844C>G	ENST00000420246.6:p.Arg282Gly
	ENST00000445888.6:c.844C>G	ENST00000445888.6:p.Arg282Gly
	ENST00000455263.6:c.844C>G	ENST00000455263.6:p.Arg282Gly
	ENST00000504290.5:c.448C>G	ENST00000504290.5:p.Arg150Gly
	ENST00000504937.5:c.448C>G	ENST00000504937.5:p.Arg150Gly
	ENST00000510385.5:c.448C>G	ENST00000510385.5:p.Arg150Gly
	ENST00000576024.2:c.844C>G	ENST00000576024.2:p.Arg282Gly
	ENST00000604348.6:c.823C>G	ENST00000604348.6:p.Arg275Gly
	ENST00000610292.4:c.727C>G	ENST00000610292.4:p.Arg243Gly
	ENST00000610538.4:c.727C>G	ENST00000610538.4:p.Arg243Gly
	ENST00000610623.4:c.367C>G	ENST00000610623.4:p.Arg123Gly
	ENST00000618944.4:c.367C>G	ENST00000618944.4:p.Arg123Gly
	ENST00000619186.4:c.367C>G	ENST00000619186.4:p.Arg123Gly
	ENST00000619485.4:c.727C>G	ENST00000619485.4:p.Arg243Gly
	ENST00000620739.4:c.727C>G	ENST00000620739.4:p.Arg243Gly
	ENST00000622645.4:c.727C>G	ENST00000622645.4:p.Arg243Gly
	ENST00000714356.1:c.727C>G	ENST00000714356.1:p.Arg243Gly
	ENST00000714357.1:c.844C>G	ENST00000714357.1:p.Arg282Gly
	ENST00000714359.1:c.844C>G	ENST00000714359.1:p.Arg282Gly
	ENST00000714408.1:c.844C>G	ENST00000714408.1:p.Arg282Gly
	ENST00000714409.1:c.844C>G	ENST00000714409.1:p.Arg282Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	COSM3675520	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-10-28	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	non-Hodgkin lymphoma	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	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	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	glioblastoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	prostate 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	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		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	Malignant melanoma of skin	somatic	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	Squamous cell carcinoma of the head and neck	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	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Pathogenic	2023-04-17	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
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
0.441	Li-Fraumeni syndrome 1	NA	CLINVAR		Detail
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.369	Li-Fraumeni syndrome	NA	CLINVAR		Detail
0.126	Li-fraumeni-like syndrome	NA	CLINVAR		Detail
0.382	osteosarcoma	NA	CLINVAR		Detail
0.441	Li-Fraumeni syndrome 1	Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.	UNIPROT	8829627	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Non-Hodgkin lymphoma	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Glioblastoma	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Prostate adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Squamous cell carcinoma of the skin	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Malignant melanoma of skin	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Papillary renal cell carcinoma type 1	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.	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: rs28934574 dbSNP
Genome: hg38
Position: chr17:7,673,776-7,673,776
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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