chr17:7674230:C>T Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,548-7,577,548 View the variant detail on this assembly version.
hg38 chr17:7,674,230-7,674,230

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.733G>A NP_000537.3:p.Gly245Ser
NM_001126112.2:c.733G>A NP_001119584.1:p.Gly245Ser
NM_001276760.1:c.733G>A NP_001263689.1:p.Gly245Ser
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
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
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 tgv229158653 TogoVar
COSMIC COSM3356965 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic 2018/04/12 Dysplasia 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 2024-03-07 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline paternal Detail
Pathogenic 2023-07-04 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 unknown germline Detail
Likely pathogenic 2014-06-01 no assertion criteria provided adenocarcinoma germline Detail
Pathogenic Likely pathogenic 2022-04-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2019-08-28 reviewed by expert panel Li-Fraumeni syndrome germline unknown Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma 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 glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma 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 Carcinoma of esophagus 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 gastric adenocarcinoma 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 somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma 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 Neoplasm of the large intestine somatic Detail
Pathogenic no assertion criteria provided atypical teratoid rhabdoid tumor germline Detail
Pathogenic no assertion criteria provided Astrocytoma, anaplastic germline Detail
Pathogenic Likely pathogenic 2021-03-19 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic criteria provided, single submitter colorectal cancer somatic Detail
Pathogenic no assertion criteria provided Familial ovarian cancer unknown Detail
Pathogenic 2021-09-10 no assertion criteria provided breast carcinoma germline Detail
Pathogenic 2022-05-16 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2022-05-16 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2022-05-16 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2022-05-16 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2022-05-16 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2022-05-16 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2022-05-16 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2022-05-16 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2022-05-16 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2022-05-16 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2022-05-16 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2022-05-16 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,bone osteosarcoma,Familial cancer of breast,Glioma susceptibility 1,Nasopharyngeal carcinoma,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic no assertion criteria provided Malignant tumor of urinary bladder somatic Detail
Pathogenic 2023-10-25 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
Pathogenic 2023-12-06 criteria provided, single submitter TP53-related disorder germline Detail
Pathogenic 2023-02-27 criteria provided, single submitter multiple acyl-CoA dehydrogenase deficiency germline Detail
Pathogenic 2023-02-27 criteria provided, single submitter xeroderma pigmentosum germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer AMGMDS3 D Predictive Supports Resistance Somatic 4 25730903 Detail
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
0.511 adenocarcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 1... CIViC Evidence Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Li-fraumeni-like syndrome ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND not provided ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Prostate adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Glioblastoma ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Lung adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Neoplasm ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Uterine carcinosarcoma ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Squamous cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Carcinoma of esophagus ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Neoplasm of brain ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Gastric adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Pancreatic adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Brainstem glioma ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Neoplasm of the large intestine ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Atypical teratoid rhabdoid tumor ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Astrocytoma, anaplastic ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Colorectal cancer ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Familial ovarian cancer ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Breast carcinoma ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Gastric cancer ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Malignant tumor of urinary bladder ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Adrenocortical carcinoma, hereditary ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND TP53-related disorder ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Multiple acyl-CoA dehydrogenase deficiency ClinVar Detail
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) AND Xeroderma pigmentosum 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
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
rs28934575 dbSNP
Genome
hg38
Position
chr17:7,674,230-7,674,230
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
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)
121380
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)
8.238589553468446E-6
Variant (CIViC) (CIViC Variant)
G245S
Transcript 1 (CIViC Variant)
ENST00000269305.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/879
Genome browser