chr17:7578406:C>T Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,406-7,578,406
hg38 chr17:7,675,088-7,675,088 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126116.1:c.128G>A NP_001119588.1:p.Arg43His
NM_001276698.1:c.128G>A NP_001263627.1:p.Arg43His
NM_000546.5:c.524G>A NP_000537.3:p.Arg175His
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 468
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 tgv56957402 TogoVar
COSMIC COSM3355994 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
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 caecum 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 extrahepatic bile duct not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 head of pancreas 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
Pathogenic 2018/08/10 skin of scalp and neck germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/08/10 connective and soft tissue of lower limb, including hip germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/08/10 breast, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/08/10 li-fraumeni syndrome germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
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
not provided Adenocarcinoma of sigmoid colon (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided Adenocarcinoma of stomach (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
Pathogenic Biliary 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 Cholangiocarcinoma of biliary tract (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided Squamous cell carcinoma of esophagus (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided Carcinoma of pancreas (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided Endometrial carcinoma (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided Primary adenocarcinoma of colon (disorder) unknown MGS000023
(TMGS000082) 		Manabu Muto Kyoto University
not provided Carcinoma of cecum (disorder) unknown MGS000023
(TMGS000082) 		Manabu Muto Kyoto University
not provided Carcinoma of pancreas (disorder) unknown MGS000025
(TMGS000084) 		Manabu Muto Kyoto 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 Adenocarcinoma of pancreas unknown MGS000025
(TMGS000084) 		Manabu Muto Kyoto University
not provided Appendiceal cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Thymic carcinoma somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Breast cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided pancreatic cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided colorectal cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Small bowel cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Bladder cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
Pathogenic 2021/03/19 control germline MGS000047
(TMGS000111) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic 2021/03/19 breast germline MGS000048
(TMGS000112) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic 2020/04/20 other somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
Pathogenic 2020/04/20 upper third of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
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 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 stomach, unspecified 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 liver cell carcinoma 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 tail 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 cervical part of oesophagus not provided MGS000041
(TMGS000094) 		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 pyloric antrum 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 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 head of pancreas not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 body of pancreas 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
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-05-11 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 unknown germline Detail
Pathogenic 2023-07-26 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome germline Detail
Pathogenic 2021-11-03 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2016-07-29 no assertion criteria provided Malignant tumor of esophagus somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm somatic Detail
not provided 2016-03-10 no assertion provided Breast neoplasm somatic Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2019-04-30 no assertion criteria provided Lip and oral cavity carcinoma somatic Detail
Pathogenic criteria provided, single submitter Squamous cell carcinoma of the head and neck somatic Detail
Pathogenic criteria provided, single submitter colorectal cancer somatic Detail
Pathogenic 2021-03-19 no assertion criteria provided Familial cancer of breast somatic Detail
Pathogenic 2022-04-10 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Bone marrow failure syndrome 5,Glioma susceptibility 1,Nasopharyngeal carcinoma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,colorectal cancer,choroid plexus papilloma unknown Detail
Pathogenic 2022-04-10 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Bone marrow failure syndrome 5,Glioma susceptibility 1,Nasopharyngeal carcinoma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,colorectal cancer,choroid plexus papilloma unknown Detail
Pathogenic 2022-04-10 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Bone marrow failure syndrome 5,Glioma susceptibility 1,Nasopharyngeal carcinoma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,colorectal cancer,choroid plexus papilloma unknown Detail
Pathogenic 2022-04-10 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Bone marrow failure syndrome 5,Glioma susceptibility 1,Nasopharyngeal carcinoma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,colorectal cancer,choroid plexus papilloma unknown Detail
Pathogenic 2022-04-10 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Bone marrow failure syndrome 5,Glioma susceptibility 1,Nasopharyngeal carcinoma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,colorectal cancer,choroid plexus papilloma unknown Detail
Pathogenic 2022-04-10 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Bone marrow failure syndrome 5,Glioma susceptibility 1,Nasopharyngeal carcinoma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,colorectal cancer,choroid plexus papilloma unknown Detail
Pathogenic 2022-04-10 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Bone marrow failure syndrome 5,Glioma susceptibility 1,Nasopharyngeal carcinoma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,colorectal cancer,choroid plexus papilloma unknown Detail
Pathogenic 2022-04-10 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Bone marrow failure syndrome 5,Glioma susceptibility 1,Nasopharyngeal carcinoma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,colorectal cancer,choroid plexus papilloma unknown Detail
Pathogenic 2022-04-10 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Bone marrow failure syndrome 5,Glioma susceptibility 1,Nasopharyngeal carcinoma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,colorectal cancer,choroid plexus papilloma unknown Detail
Pathogenic 2022-04-10 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Bone marrow failure syndrome 5,Glioma susceptibility 1,Nasopharyngeal carcinoma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,colorectal cancer,choroid plexus papilloma unknown Detail
Pathogenic 2022-04-10 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Bone marrow failure syndrome 5,Glioma susceptibility 1,Nasopharyngeal carcinoma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,colorectal cancer,choroid plexus papilloma unknown Detail
Pathogenic 2022-04-10 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Bone marrow failure syndrome 5,Glioma susceptibility 1,Nasopharyngeal carcinoma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,colorectal cancer,choroid plexus papilloma unknown Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic 2023-10-06 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
stomach carcinoma EAP Protocol C Predictive Supports Sensitivity/Response Somatic 14514923 Detail
breast cancer Doxorubicin D Predictive Supports Sensitivity/Response Somatic 3 22698404 Detail
breast cancer B Prognostic Supports Poor Outcome Somatic 3 16489069 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 The consensus coding sequences of human breast and colorectal cancers. UNIPROT 16959974 Detail
0.441 Li-Fraumeni syndrome 1 NA CLINVAR Detail
0.382 osteosarcoma Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H,... BeFree 16778209 Detail
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.031 Osteosarcoma of bone Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H,... BeFree 16778209 Detail
0.001 Squamous cell carcinoma of pharynx Using short hairpin RNA against p53, transient ectopic expression of wild-type p... BeFree 21308745 Detail
<0.001 Glioma Overexpression of the paradigmatic p53 mutants p53(R175H), p53(R248W) and p53(R2... BeFree 18202704 Detail
<0.001 Primary myelofibrosis A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre... BeFree 22052707 Detail
<0.001 Primary myelofibrosis A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre... BeFree 22052707 Detail
<0.001 Primary myelofibrosis A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre... BeFree 22052707 Detail
<0.001 Primary myelofibrosis A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre... BeFree 22052707 Detail
<0.001 Non-small cell lung carcinoma The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was up... BeFree 21621504 Detail
0.219 Non-small cell lung carcinoma The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was up... BeFree 21621504 Detail
0.029 breast carcinoma Since the p53 tumor suppressor pathway is inactivated in most human cancers due ... BeFree 19507255 Detail
0.080 breast carcinoma Since the p53 tumor suppressor pathway is inactivated in most human cancers due ... BeFree 19507255 Detail
0.121 endometrial carcinoma Elevated expression of p53 gain-of-function mutation R175H in endometrial cancer... BeFree 19917135 Detail
0.005 Carcinoma, Large Cell The results demonstrate that the excision of incorporated nucleoside analogs in ... BeFree 19287302 Detail
0.240 Malignant neoplasm of breast Since the p53 tumor suppressor pathway is inactivated in most human cancers due ... BeFree 19507255 Detail
0.038 Malignant neoplasm of breast Since the p53 tumor suppressor pathway is inactivated in most human cancers due ... BeFree 19507255 Detail
0.017 Malignant neoplasm of endometrium Elevated expression of p53 gain-of-function mutation R175H in endometrial cancer... BeFree 19917135 Detail
0.017 Congenital chromosomal disease Moreover, we noted an association between some chromosomal abnormalities and tel... BeFree 25059482 Detail
0.031 Osteosarcoma of bone Transfection of mutant p53 (R175H) to p53-null osteosarcoma Saos-2 cells suppres... BeFree 15578696 Detail
0.041 melanoma Since loss of p53 tumor suppressor function or overexpression of the anti-apopto... BeFree 18458532 Detail
0.017 uterine corpus cancer Elevated expression of p53 gain-of-function mutation R175H in endometrial cancer... BeFree 19917135 Detail
0.226 melanoma Metabolic utilization of exogenous pyruvate by mutant p53 (R175H) human melanoma... BeFree 21832879 Detail
0.382 osteosarcoma Transfection of mutant p53 (R175H) to p53-null osteosarcoma Saos-2 cells suppres... BeFree 15578696 Detail
Annotation

Annotations

DescrptionSourceLinks
In a study of 25 patients with advanced gastric cancer, mutations in TP53 were identified in 32% of ... CIViC Evidence Detail
Breast tumors in a mouse model with R172H mutation (homologous to human R175H) are more responsive t... CIViC Evidence Detail
Breast cancer patients who harbor R175H mutation have worse overall survival than those with wild ty... 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.524G>A (p.Arg175His) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND not provided ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND Malignant tumor of esophagus ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND Neoplasm ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND Lip and oral cavity carcinoma ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND Colorectal cancer ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND Familial cancer of breast ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND Gastric cancer ClinVar Detail
NM_000546.6(TP53):c.524G>A (p.Arg175His) AND Adrenocortical carcinoma, hereditary ClinVar Detail
The consensus coding sequences of human breast and colorectal cancers. DisGeNET Detail
NA DisGeNET Detail
Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were es... DisGeNET Detail
NA DisGeNET Detail
Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were es... DisGeNET Detail
Using short hairpin RNA against p53, transient ectopic expression of wild-type p53 or mutant p53 (R2... DisGeNET Detail
Overexpression of the paradigmatic p53 mutants p53(R175H), p53(R248W) and p53(R273H) in the p53 null... DisGeNET Detail
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati... DisGeNET Detail
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati... DisGeNET Detail
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati... DisGeNET Detail
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati... DisGeNET Detail
The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was upregulated in a non-s... DisGeNET Detail
The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was upregulated in a non-s... DisGeNET Detail
Since the p53 tumor suppressor pathway is inactivated in most human cancers due to gene mutations or... DisGeNET Detail
Since the p53 tumor suppressor pathway is inactivated in most human cancers due to gene mutations or... DisGeNET Detail
Elevated expression of p53 gain-of-function mutation R175H in endometrial cancer cells can increase ... DisGeNET Detail
The results demonstrate that the excision of incorporated nucleoside analogs in mitochondrial fracti... DisGeNET Detail
Since the p53 tumor suppressor pathway is inactivated in most human cancers due to gene mutations or... DisGeNET Detail
Since the p53 tumor suppressor pathway is inactivated in most human cancers due to gene mutations or... DisGeNET Detail
Elevated expression of p53 gain-of-function mutation R175H in endometrial cancer cells can increase ... DisGeNET Detail
Moreover, we noted an association between some chromosomal abnormalities and telomere elongation in ... DisGeNET Detail
Transfection of mutant p53 (R175H) to p53-null osteosarcoma Saos-2 cells suppressed apoptosis induce... DisGeNET Detail
Since loss of p53 tumor suppressor function or overexpression of the anti-apoptotic bcl-2 gene can d... DisGeNET Detail
Elevated expression of p53 gain-of-function mutation R175H in endometrial cancer cells can increase ... DisGeNET Detail
Metabolic utilization of exogenous pyruvate by mutant p53 (R175H) human melanoma cells promotes surv... DisGeNET Detail
Transfection of mutant p53 (R175H) to p53-null osteosarcoma Saos-2 cells suppressed apoptosis induce... 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
rs28934578 dbSNP
Genome
hg19
Position
chr17:7,578,406-7,578,406
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)
121316
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)
8.242935804015958E-6
Variant (CIViC) (CIViC Variant)
R175H
Transcript 1 (CIViC Variant)
ENST00000269305.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/116
Summary (CIViC Variant)
While loss-of-function events in TP53 are very common in cancer, the R175H variant seems not only to result in loss of tumor-suppression, but also acts as a gain-of-function mutation that promotes tumorigenesis in mouse models. Cell lines harboring 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 shown that the R175H mutation is correlated with worse overall survival than wild-type TP53, but is not as detrimental as the R248W variant. This variant is rare in population databases (ACMG code: PM2; 0.000003980 total exome AF gnomAD v2.1.1).
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