chr17:7673776:G>A Detail (hg38) (TP53)

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

Type Transcript Protein
RefSeq NM_000546.5:c.844C>T NP_000537.3:p.Arg282Trp
NM_001126112.2:c.844C>T NP_001119584.1:p.Arg282Trp
NM_001276760.1:c.844C>T NP_001263689.1:p.Arg282Trp
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 6
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
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 COSM3378339 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic 2017/10/05 Undifferentiated endometrial sarcoma somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Likely pathogenic 2017/11/09 squamous cell carcinoma somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Likely pathogenic 2018/01/25 Rectal cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Likely pathogenic 2018/01/25 Rectal cancer (metastasis) somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1995-01-01 no assertion criteria provided Li-fraumeni-like syndrome germline Detail
Pathogenic Likely pathogenic 2023-07-07 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline maternal unknown Detail
Pathogenic 2024-01-18 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome germline unknown Detail
Pathogenic Likely pathogenic 2022-06-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2021-05-21 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Likely pathogenic 2016-05-31 no assertion criteria provided non-Hodgkin lymphoma 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 glioblastoma 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 ovarian serous cystadenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate 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 hepatocellular 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 pancreatic adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric 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 lung adenocarcinoma somatic Detail
Pathogenic criteria provided, single submitter Squamous cell carcinoma of the head and neck 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 Neoplasm of brain somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Pathogenic 2016-11-04 criteria provided, single submitter pleomorphic xanthoastrocytoma,Astrocytoma, anaplastic germline Detail
Pathogenic 2016-11-04 criteria provided, single submitter pleomorphic xanthoastrocytoma,Astrocytoma, anaplastic germline Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic criteria provided, single submitter colorectal cancer somatic Detail
Likely pathogenic 2019-02-12 criteria provided, single submitter diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 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

DescrptionSourceLinks
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Li-fraumeni-like syndrome ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND not provided ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Non-Hodgkin lymphoma ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Malignant melanoma of skin ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Glioblastoma ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Squamous cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Squamous cell carcinoma of the skin ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Prostate adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Neoplasm of the large intestine ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Pancreatic adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Gastric adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Carcinoma of esophagus ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Lung adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Papillary renal cell carcinoma type 1 ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Neoplasm of brain ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Colorectal cancer ClinVar Detail
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Diffuse pediatric-type high-grade glioma, H3-wildtype a... 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
A
East Asian Chromosome Counts (ExAC)
8608
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)
120540
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6592002654720424E-5
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