chr17:7577094:G>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,094-7,577,094
hg38 chr17:7,673,776-7,673,776 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126113.2:c.844C>T NP_001119585.1:p.Arg282Trp
NM_001276695.1:c.844C>T NP_001263624.1:p.Arg282Trp
NM_001126116.1:c.448C>T NP_001119588.1:p.Arg150Trp
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic not provided
Variant entry 246
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
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 upper third of oesophagus not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 middle third of oesophagus not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 lower third of oesophagus not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 oesophagus, unspecified not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 fundus of stomach not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 body of stomach not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 pyloric antrum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 duodenum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 caecum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 appendix not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 ascending colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 transverse colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 descending colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 sigmoid colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 colon, unspecified not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectosigmoid junction not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 anal canal not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 liver cell carcinoma not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 extrahepatic bile duct not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 body of pancreas not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 ill-defined sites within the digestive system not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Likely pathogenic 2018/05/13 li-fraumeni syndrome germline MGS000029
(TMGS000133)
Hitoshi Nakagama National Cancer Center Japan
Likely pathogenic 2018/05/13 breast, unspecified germline MGS000029
(TMGS000133)
Hitoshi Nakagama National Cancer Center Japan
Likely pathogenic 2018/05/13 retroperitoneum germline MGS000029
(TMGS000133)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic Colorectal somatic MGS000038
(TMGS000091)
Manabu Muto
Ichiro Kinoshita
Kyoto University
Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006)
Keizo Horibe National Hospital Organization Nagoya Medical Center
not provided 2018/05/15 stomach neoplasms somatic MGS000017
(TMGS000034)
Kohei Miyazono Tokyo University
not provided Adenocarcinoma of sigmoid colon (disorder) unknown MGS000021
(TMGS000080)
Manabu Muto Kyoto University
not provided Adenocarcinoma of rectum (disorder) unknown MGS000021
(TMGS000080)
Manabu Muto Kyoto University
not provided Adenocarcinoma of sigmoid colon (disorder) unknown MGS000025
(TMGS000084)
Manabu Muto Kyoto University
not provided Salivary carcinoma somatic MGS000018
(TMGS000110)
Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Meningioma somatic MGS000018
(TMGS000110)
Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Soft tissue sarcoma somatic MGS000018
(TMGS000110)
Hitoshi Nakagama National Cancer Center Japan 30742731
Pathogenic 2020/04/20 upper third of oesophagus not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 oesophagus, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 fundus of stomach not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 body of stomach not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 pyloric antrum not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 duodenum not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 small intestine, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 caecum not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 appendix not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 ascending colon not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 transverse colon not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 descending colon not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 sigmoid colon not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 colon, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectosigmoid junction not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectum not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 anal canal not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of gallbladder not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 extrahepatic bile duct not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 head of pancreas not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 body of pancreas not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 ill-defined sites within the digestive system not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 middle third of oesophagus not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 fundus of stomach not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 body of stomach not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 stomach, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 caecum not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 appendix not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 descending colon not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 colon, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectosigmoid junction not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectum not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 anal canal not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 liver cell carcinoma not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 ill-defined sites within the digestive system not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
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
hg19
Position
chr17:7,577,094-7,577,094
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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