chr17:7675190:C>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	chr17:7,578,508-7,578,508 View the variant detail on this assembly version.
hg38	chr17:7,675,190-7,675,190

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001276696.1:c.305G>A	NP_001263625.1:p.Cys102Tyr
	NM_000546.5:c.422G>A	NP_000537.3:p.Cys141Tyr
	NM_001126112.2:c.422G>A	NP_001119584.1:p.Cys141Tyr
	NM_001276760.1:c.422G>A	NP_001263689.1:p.Cys141Tyr
	NM_001276761.1:c.422G>A	NP_001263690.1:p.Cys141Tyr
	NM_001126113.2:c.422G>A	NP_001119585.1:p.Cys141Tyr
	NM_001276695.1:c.422G>A	NP_001263624.1:p.Cys141Tyr
	NM_001126116.1:c.26G>A	NP_001119588.1:p.Cys9Tyr
	NM_001276698.1:c.26G>A	NP_001263627.1:p.Cys9Tyr
	NM_001126118.1:c.305G>A	NP_001119590.1:p.Cys102Tyr
	NM_001126117.1:c.-56G>A
	NM_001276699.1:c.-56G>A
	NM_001126115.1:c.-56G>A
	NM_001276697.1:c.-56G>A
Ensemble	ENST00000620739.4:c.305G>A	ENST00000620739.4:p.Cys102Tyr
	ENST00000622645.4:c.305G>A	ENST00000622645.4:p.Cys102Tyr
	ENST00000714356.1:c.305G>A	ENST00000714356.1:p.Cys102Tyr
	ENST00000714357.1:c.422G>A	ENST00000714357.1:p.Cys141Tyr
	ENST00000714359.1:c.422G>A	ENST00000714359.1:p.Cys141Tyr
	ENST00000714408.1:c.422G>A	ENST00000714408.1:p.Cys141Tyr
	ENST00000714409.1:c.422G>A	ENST00000714409.1:p.Cys141Tyr
	ENST00000269305.9:c.422G>A	ENST00000269305.9:p.Cys141Tyr
	ENST00000359597.8:c.422G>A	ENST00000359597.8:p.Cys141Tyr
	ENST00000413465.6:c.422G>A	ENST00000413465.6:p.Cys141Tyr
	ENST00000420246.6:c.422G>A	ENST00000420246.6:p.Cys141Tyr
	ENST00000445888.6:c.422G>A	ENST00000445888.6:p.Cys141Tyr
	ENST00000455263.6:c.422G>A	ENST00000455263.6:p.Cys141Tyr
	ENST00000504290.5:c.26G>A	ENST00000504290.5:p.Cys9Tyr
	ENST00000504937.5:c.26G>A	ENST00000504937.5:p.Cys9Tyr
	ENST00000510385.5:c.26G>A	ENST00000510385.5:p.Cys9Tyr
	ENST00000576024.2:c.422G>A	ENST00000576024.2:p.Cys141Tyr
	ENST00000604348.6:c.401G>A	ENST00000604348.6:p.Cys134Tyr
	ENST00000610292.4:c.305G>A	ENST00000610292.4:p.Cys102Tyr
	ENST00000610538.4:c.305G>A	ENST00000610538.4:p.Cys102Tyr
	ENST00000610623.4:c.-56G>A
	ENST00000618944.4:c.-56G>A
	ENST00000619186.4:c.-56G>A
	ENST00000619485.4:c.305G>A	ENST00000619485.4:p.Cys102Tyr

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	COSM3378367	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-08-28	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	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	pancreatic 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	Squamous cell lung carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	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	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	acute myeloid leukemia	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	multiple myeloma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	prostate adenocarcinoma	somatic	Detail
Pathogenic	2024-01-17	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Pathogenic	2020-09-18	criteria provided, single submitter	not provided	germline	Detail
Pathogenic Likely pathogenic	2024-02-13	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome 1	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Papillary renal cell carcinoma type 1	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Acute myeloid leukemia	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Multiple myeloma	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Prostate adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) AND Li-Fraumeni syndrome 1	ClinVar	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: rs587781288 dbSNP
Genome: hg38
Position: chr17:7,675,190-7,675,190
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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