chr17:7674241:G>C 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	chr17:7,577,559-7,577,559 View the variant detail on this assembly version.
hg38	chr17:7,674,241-7,674,241

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.722C>G	NP_000537.3:p.Ser241Cys
	NM_001126112.2:c.722C>G	NP_001119584.1:p.Ser241Cys
	NM_001276760.1:c.722C>G	NP_001263689.1:p.Ser241Cys
	NM_001276761.1:c.722C>G	NP_001263690.1:p.Ser241Cys
	NM_001126113.2:c.722C>G	NP_001119585.1:p.Ser241Cys
	NM_001276695.1:c.722C>G	NP_001263624.1:p.Ser241Cys
	NM_001126116.1:c.326C>G	NP_001119588.1:p.Ser109Cys
	NM_001276698.1:c.326C>G	NP_001263627.1:p.Ser109Cys
	NM_001126118.1:c.605C>G	NP_001119590.1:p.Ser202Cys
	NM_001126117.1:c.245C>G	NP_001119589.1:p.Ser82Cys
	NM_001276699.1:c.245C>G	NP_001263628.1:p.Ser82Cys
	NM_001126115.1:c.245C>G	NP_001119587.1:p.Ser82Cys
	NM_001276697.1:c.245C>G	NP_001263626.1:p.Ser82Cys
	NM_001276696.1:c.605C>G	NP_001263625.1:p.Ser202Cys
Ensemble	ENST00000269305.9:c.722C>G	ENST00000269305.9:p.Ser241Cys
	ENST00000359597.8:c.722C>G	ENST00000359597.8:p.Ser241Cys
	ENST00000413465.6:c.722C>G	ENST00000413465.6:p.Ser241Cys
	ENST00000420246.6:c.722C>G	ENST00000420246.6:p.Ser241Cys
	ENST00000445888.6:c.722C>G	ENST00000445888.6:p.Ser241Cys
	ENST00000455263.6:c.722C>G	ENST00000455263.6:p.Ser241Cys
	ENST00000504290.5:c.326C>G	ENST00000504290.5:p.Ser109Cys
	ENST00000504937.5:c.326C>G	ENST00000504937.5:p.Ser109Cys
	ENST00000510385.5:c.326C>G	ENST00000510385.5:p.Ser109Cys
	ENST00000576024.2:c.722C>G	ENST00000576024.2:p.Ser241Cys
	ENST00000604348.6:c.701C>G	ENST00000604348.6:p.Ser234Cys
	ENST00000610292.4:c.605C>G	ENST00000610292.4:p.Ser202Cys
	ENST00000610538.4:c.605C>G	ENST00000610538.4:p.Ser202Cys
	ENST00000610623.4:c.245C>G	ENST00000610623.4:p.Ser82Cys
	ENST00000618944.4:c.245C>G	ENST00000618944.4:p.Ser82Cys
	ENST00000619186.4:c.245C>G	ENST00000619186.4:p.Ser82Cys
	ENST00000619485.4:c.605C>G	ENST00000619485.4:p.Ser202Cys
	ENST00000620739.4:c.605C>G	ENST00000620739.4:p.Ser202Cys
	ENST00000622645.4:c.605C>G	ENST00000622645.4:p.Ser202Cys
	ENST00000714356.1:c.605C>G	ENST00000714356.1:p.Ser202Cys
	ENST00000714357.1:c.722C>G	ENST00000714357.1:p.Ser241Cys
	ENST00000714359.1:c.722C>G	ENST00000714359.1:p.Ser241Cys
	ENST00000714408.1:c.722C>G	ENST00000714408.1:p.Ser241Cys
	ENST00000714409.1:c.722C>G	ENST00000714409.1:p.Ser241Cys

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 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	COSM3362448	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2023-05-01	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2018-04-10	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	glioblastoma	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 brain	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gallbladder carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	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	Papillary renal cell carcinoma, sporadic	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		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		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		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	uterine carcinosarcoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	non-Hodgkin lymphoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	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
Pathogenic Likely pathogenic	2022-06-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Likely pathogenic	2024-02-16	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome 1	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.441	Li-Fraumeni syndrome 1	The consensus coding sequences of human breast and colorectal cancers.	UNIPROT	16959974	Detail
0.441	Li-Fraumeni syndrome 1	NA	CLINVAR		Detail
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.382	osteosarcoma	NA	CLINVAR		Detail
0.130	hepatoblastoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Glioblastoma	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Gallbladder carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Papillary renal cell carcinoma type 1	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Papillary renal cell carcinoma, sporadic	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Brainstem glioma	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Squamous cell carcinoma of the skin	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Uterine carcinosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Non-Hodgkin lymphoma	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Malignant melanoma of skin	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) AND Li-Fraumeni syndrome 1	ClinVar	Detail
The consensus coding sequences of human breast and colorectal cancers.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: rs28934573 dbSNP
Genome: hg38
Position: chr17:7,674,241-7,674,241
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8652
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): 121374
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): 8.238996819747227E-6

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