chr17:7577121:G>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,121-7,577,121
hg38 chr17:7,673,803-7,673,803 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126116.1:c.421C>T NP_001119588.1:p.Arg141Cys
NM_001276698.1:c.421C>T NP_001263627.1:p.Arg141Cys
NM_000546.5:c.817C>T NP_000537.3:p.Arg273Cys
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 215
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 COSM3355991 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 middle 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 stomach, unspecified 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 jejunum 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 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
not provided Acute myeloblastic leukaemia somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
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
Pathogenic 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
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
Pathogenic NSCLC somatic MGS000038
(TMGS000091) 		Manabu Muto
Ichiro Kinoshita		 Kyoto University
Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
Pathogenic Endometrial 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 Neoplasm of urachus (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided Carcinoma of lower third of esophagus (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided Carcinoma of breast (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided Squamous cell carcinoma of esophagus (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
Pathogenic Stomach somatic MGS000038
(TMGS000091) 		Manabu Muto
Ichiro Kinoshita		 Kyoto University
Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
Pathogenic Pancreas 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 Malignant tumor of rectum (disorder) unknown MGS000023
(TMGS000082) 		Manabu Muto Kyoto University
not provided Carcinoma of pancreas (disorder) unknown MGS000025
(TMGS000084) 		Manabu Muto Kyoto University
not provided Primary malignant neoplasm of ovary (disorder)_Mucin (substance) unknown MGS000025
(TMGS000084) 		Manabu Muto Kyoto University
not provided Ovarian cancer 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
not provided Biliary cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Non-small cell lung cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
Pathogenic 2021/03/19 breast germline MGS000048
(TMGS000112) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic Pleuropulmonary blastoma (PPB) somatic MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic 2020/04/20 other somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
Pathogenic 2020/04/20 middle third of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 lower third of oesophagus 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 caecum 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 malignant neoplasm of gallbladder 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 oesophagus, unspecified 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 pyloric antrum 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 duodenum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 jejunum 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 transverse colon 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 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 Likely pathogenic 2022-06-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2024-02-20 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 unknown germline Detail
Uncertain significance no assertion criteria provided Malignant tumor of prostate somatic Detail
Pathogenic 2024-01-13 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome germline Detail
Pathogenic 2023-03-22 criteria provided, multiple submitters, no conflicts not provided unknown germline Detail
not provided 2016-03-10 no assertion provided Breast neoplasm somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2014-10-02 no assertion criteria provided acute myeloid leukemia somatic Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2023-09-05 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
stomach carcinoma Cisplatin,Etoposide,Mitomycin C Predictive Does Not Support Sensitivity/Response Somatic 3 14514923 Detail
breast cancer B Prognostic Supports Poor Outcome Somatic 3 16489069 Detail
breast cancer B Prognostic Supports Poor Outcome Somatic 3 9569050 Detail
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
0.157 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

DescrptionSourceLinks
A female patient taking part in a 25 patient gastric cancer trial was diagnosed at age 46, and recei... CIViC Evidence Detail
Breast cancer patients who harbor R273C mutation have worse overall survival than those with wild ty... CIViC Evidence Detail
In breast cancer patients harboring TP53 mutation, mutations in DNA contact regions such as R273 ar... CIViC Evidence Detail
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.817C>T (p.Arg273Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) AND Malignant tumor of prostate ClinVar Detail
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) AND not provided ClinVar Detail
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) AND Neoplasm ClinVar Detail
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) AND Acute myeloid leukemia ClinVar Detail
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) AND Adrenocortical carcinoma, hereditary 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
hg19
Position
chr17:7,577,121-7,577,121
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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
Variant (CIViC) (CIViC Variant)
R273C
Transcript 1 (CIViC Variant)
ENST00000269305.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/121
Summary (CIViC Variant)
While loss-of-function events in TP53 are very common in cancer, the R273 variants seem not only to result in loss of tumor-suppression, but also act as a gain-of-function mutation that can promote tumorigenesis in mouse models. This mutant is also more responsive to treatment with doxorubicin than its wild-type counterparts. While the prognostic impact of individual TP53 mutations is influenced by the cohort being studied, it has been suggested that the R273 mutants have been correlated with worse overall survival in breast cancer patients when compared to wild-type.
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