chr17:7673803:G>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	chr17:7,577,121-7,577,121 View the variant detail on this assembly version.
hg38	chr17:7,673,803-7,673,803

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.817C>A	NP_000537.3:p.Arg273Ser
	NM_001126112.2:c.817C>A	NP_001119584.1:p.Arg273Ser
	NM_001276760.1:c.817C>A	NP_001263689.1:p.Arg273Ser
	NM_001276761.1:c.817C>A	NP_001263690.1:p.Arg273Ser
	NM_001126113.2:c.817C>A	NP_001119585.1:p.Arg273Ser
	NM_001276695.1:c.817C>A	NP_001263624.1:p.Arg273Ser
	NM_001126116.1:c.421C>A	NP_001119588.1:p.Arg141Ser
	NM_001276698.1:c.421C>A	NP_001263627.1:p.Arg141Ser
	NM_001126118.1:c.700C>A	NP_001119590.1:p.Arg234Ser
	NM_001126117.1:c.340C>A	NP_001119589.1:p.Arg114Ser
	NM_001276699.1:c.340C>A	NP_001263628.1:p.Arg114Ser
	NM_001126115.1:c.340C>A	NP_001119587.1:p.Arg114Ser
	NM_001276697.1:c.340C>A	NP_001263626.1:p.Arg114Ser
	NM_001276696.1:c.700C>A	NP_001263625.1:p.Arg234Ser
Ensemble	ENST00000576024.2:c.817C>A	ENST00000576024.2:p.Arg273Ser
	ENST00000269305.9:c.817C>A	ENST00000269305.9:p.Arg273Ser
	ENST00000359597.8:c.817C>A	ENST00000359597.8:p.Arg273Ser
	ENST00000413465.6:c.782+378C>A
	ENST00000420246.6:c.817C>A	ENST00000420246.6:p.Arg273Ser
	ENST00000445888.6:c.817C>A	ENST00000445888.6:p.Arg273Ser
	ENST00000455263.6:c.817C>A	ENST00000455263.6:p.Arg273Ser
	ENST00000504290.5:c.421C>A	ENST00000504290.5:p.Arg141Ser
	ENST00000504937.5:c.421C>A	ENST00000504937.5:p.Arg141Ser
	ENST00000510385.5:c.421C>A	ENST00000510385.5:p.Arg141Ser
	ENST00000604348.6:c.796C>A	ENST00000604348.6:p.Arg266Ser
	ENST00000610292.4:c.700C>A	ENST00000610292.4:p.Arg234Ser
	ENST00000610538.4:c.700C>A	ENST00000610538.4:p.Arg234Ser
	ENST00000610623.4:c.340C>A	ENST00000610623.4:p.Arg114Ser
	ENST00000618944.4:c.340C>A	ENST00000618944.4:p.Arg114Ser
	ENST00000619186.4:c.340C>A	ENST00000619186.4:p.Arg114Ser
	ENST00000619485.4:c.700C>A	ENST00000619485.4:p.Arg234Ser
	ENST00000620739.4:c.700C>A	ENST00000620739.4:p.Arg234Ser
	ENST00000622645.4:c.700C>A	ENST00000622645.4:p.Arg234Ser
	ENST00000714356.1:c.700C>A	ENST00000714356.1:p.Arg234Ser
	ENST00000714357.1:c.817C>A	ENST00000714357.1:p.Arg273Ser
	ENST00000714359.1:c.817C>A	ENST00000714359.1:p.Arg273Ser
	ENST00000714408.1:c.817C>A	ENST00000714408.1:p.Arg273Ser
	ENST00000714409.1:c.817C>A	ENST00000714409.1:p.Arg273Ser

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
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	COSM3958801	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	lung adenocarcinoma	somatic	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	B-cell chronic lymphocytic leukemia	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	hepatocellular carcinoma	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	medulloblastoma	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		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	Small 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	multiple myeloma	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	prostate 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	Squamous cell lung carcinoma	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	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	uterine carcinosarcoma	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	Breast neoplasm	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Pathogenic	2022-06-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-12-15	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Pathogenic	2024-02-20	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	NA	CLINVAR		Detail
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.157	pancreatic carcinoma	Using the whole-cell recording mode of the patch-clamp technique, functional ion...	BeFree	14978241	Detail
0.002	pancreatic carcinoma	Using the whole-cell recording mode of the patch-clamp technique, functional ion...	BeFree	14978241	Detail
0.039	Malignant neoplasm of pancreas	Using the whole-cell recording mode of the patch-clamp technique, functional ion...	BeFree	14978241	Detail
0.002	Malignant neoplasm of pancreas	Using the whole-cell recording mode of the patch-clamp technique, functional ion...	BeFree	14978241	Detail
0.382	osteosarcoma	Some of the genetic changes identified were in tumor suppressor genes previously...	BeFree	22006429	Detail
0.134	osteosarcoma	Some of the genetic changes identified were in tumor suppressor genes previously...	BeFree	22006429	Detail
0.010	Osteosarcoma of bone	Some of the genetic changes identified were in tumor suppressor genes previously...	BeFree	22006429	Detail
0.031	Osteosarcoma of bone	Some of the genetic changes identified were in tumor suppressor genes previously...	BeFree	22006429	Detail
0.226	melanoma	Two new mutations, the G542E exon 12 mutation variant of the FGFR2 gene and the ...	BeFree	24858661	Detail
0.230	Malignant neoplasm of prostate	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Lung adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Glioblastoma	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND B-cell chronic lymphocytic leukemia	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Neoplasm of brain	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Medulloblastoma	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Malignant melanoma of skin	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Brainstem glioma	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Small cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Carcinoma of esophagus	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Multiple myeloma	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Adrenal cortex carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Prostate adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Uterine carcinosarcoma	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Acute myeloid leukemia	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Breast neoplasm	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Using the whole-cell recording mode of the patch-clamp technique, functional ion channels were elect...	DisGeNET	Detail
Using the whole-cell recording mode of the patch-clamp technique, functional ion channels were elect...	DisGeNET	Detail
Using the whole-cell recording mode of the patch-clamp technique, functional ion channels were elect...	DisGeNET	Detail
Using the whole-cell recording mode of the patch-clamp technique, functional ion channels were elect...	DisGeNET	Detail
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter...	DisGeNET	Detail
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter...	DisGeNET	Detail
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter...	DisGeNET	Detail
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter...	DisGeNET	Detail
Two new mutations, the G542E exon 12 mutation variant of the FGFR2 gene and the R273C mutation varia...	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: rs121913343 dbSNP
Genome: hg38
Position: chr17:7,673,803-7,673,803
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 7940
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): 112536
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): 8.886045354375489E-6

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