chr17:7674893:C>T 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	chr17:7,578,211-7,578,211 View the variant detail on this assembly version.
hg38	chr17:7,674,893-7,674,893

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.638G>A	NP_000537.3:p.Arg213Gln
	NM_001126112.2:c.638G>A	NP_001119584.1:p.Arg213Gln
	NM_001276760.1:c.638G>A	NP_001263689.1:p.Arg213Gln
	NM_001276761.1:c.638G>A	NP_001263690.1:p.Arg213Gln
	NM_001126113.2:c.638G>A	NP_001119585.1:p.Arg213Gln
	NM_001276695.1:c.638G>A	NP_001263624.1:p.Arg213Gln
	NM_001126116.1:c.242G>A	NP_001119588.1:p.Arg81Gln
	NM_001276698.1:c.242G>A	NP_001263627.1:p.Arg81Gln
	NM_001126118.1:c.521G>A	NP_001119590.1:p.Arg174Gln
	NM_001126117.1:c.161G>A	NP_001119589.1:p.Arg54Gln
	NM_001276699.1:c.161G>A	NP_001263628.1:p.Arg54Gln
	NM_001126115.1:c.161G>A	NP_001119587.1:p.Arg54Gln
	NM_001276697.1:c.161G>A	NP_001263626.1:p.Arg54Gln
	NM_001276696.1:c.521G>A	NP_001263625.1:p.Arg174Gln
Ensemble	ENST00000269305.9:c.638G>A	ENST00000269305.9:p.Arg213Gln
	ENST00000359597.8:c.638G>A	ENST00000359597.8:p.Arg213Gln
	ENST00000413465.6:c.638G>A	ENST00000413465.6:p.Arg213Gln
	ENST00000420246.6:c.638G>A	ENST00000420246.6:p.Arg213Gln
	ENST00000445888.6:c.638G>A	ENST00000445888.6:p.Arg213Gln
	ENST00000455263.6:c.638G>A	ENST00000455263.6:p.Arg213Gln
	ENST00000714356.1:c.521G>A	ENST00000714356.1:p.Arg174Gln
	ENST00000714357.1:c.638G>A	ENST00000714357.1:p.Arg213Gln
	ENST00000714359.1:c.638G>A	ENST00000714359.1:p.Arg213Gln
	ENST00000714408.1:c.638G>A	ENST00000714408.1:p.Arg213Gln
	ENST00000714409.1:c.638G>A	ENST00000714409.1:p.Arg213Gln
	ENST00000504290.5:c.242G>A	ENST00000504290.5:p.Arg81Gln
	ENST00000504937.5:c.242G>A	ENST00000504937.5:p.Arg81Gln
	ENST00000510385.5:c.242G>A	ENST00000510385.5:p.Arg81Gln
	ENST00000576024.2:c.638G>A	ENST00000576024.2:p.Arg213Gln
	ENST00000604348.6:c.617G>A	ENST00000604348.6:p.Arg206Gln
	ENST00000610292.4:c.521G>A	ENST00000610292.4:p.Arg174Gln
	ENST00000610538.4:c.521G>A	ENST00000610538.4:p.Arg174Gln
	ENST00000610623.4:c.161G>A	ENST00000610623.4:p.Arg54Gln
	ENST00000618944.4:c.161G>A	ENST00000618944.4:p.Arg54Gln
	ENST00000619186.4:c.161G>A	ENST00000619186.4:p.Arg54Gln
	ENST00000619485.4:c.521G>A	ENST00000619485.4:p.Arg174Gln
	ENST00000620739.4:c.521G>A	ENST00000620739.4:p.Arg174Gln
	ENST00000622645.4:c.521G>A	ENST00000622645.4:p.Arg174Gln

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
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
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	COSM3403265	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2022/07/21	li-fraumeni syndrome	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2022/07/21	bronchus or lung, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided	2013-09-19	no assertion provided	not specified	germline	Detail
Pathogenic	2024-01-22	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome	germline	Detail
Pathogenic	2023-04-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-04-19	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome 1	germline unknown	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		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	glioblastoma	somatic	Detail
Pathogenic	2021-11-16	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	uterine carcinosarcoma	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	Papillary renal cell carcinoma type 1	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	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	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	prostate adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Nasopharyngeal neoplasm	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	Neoplasm of brain	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Adrenal cortex carcinoma	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	Squamous cell lung carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	adenoid cystic carcinoma	somatic	Detail
drug response	2017-11-27	no assertion criteria provided		somatic	Detail
Pathogenic	2019-04-30	no assertion criteria provided	Lip and oral cavity carcinoma	somatic	Detail
Pathogenic	2019-08-09	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail
Pathogenic	2023-08-22	criteria provided, single submitter	Adrenocortical carcinoma, hereditary	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	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

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND not specified	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Squamous cell carcinoma of the skin	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Glioblastoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Uterine carcinosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Papillary renal cell carcinoma type 1	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Malignant melanoma of skin	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Prostate adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Nasopharyngeal neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Adrenal cortex carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Adenoid cystic carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Poly (ADP-Ribose) polymerase inhibitor response	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Lip and oral cavity carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Adrenocortical carcinoma, hereditary	ClinVar	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: rs587778720 dbSNP
Genome: hg38
Position: chr17:7,674,893-7,674,893
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8650
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): 121096
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): 8.257911078813503E-6

Genome browser

chr17:7674893:C>T Detail (hg38) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript