chr17:7577120:C>T Detail (hg19) (TP53)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:7,577,120-7,577,120 |
| hg38 | chr17:7,673,802-7,673,802 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001126116.1:c.422G>A | NP_001119588.1:p.Arg141His |
| NM_001276698.1:c.422G>A | NP_001263627.1:p.Arg141His | |
| NM_000546.5:c.818G>A | NP_000537.3:p.Arg273His |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 238 |
| 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 | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2020/04/20 | abdominal part 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 | 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 | 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 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 | 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 | tail 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 | |||
|
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
|
Malignant tumor of unknown origin (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto 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
|
Hepatocellular carcinoma (morphologic abnormality) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
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
|
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
|
Transitional cell carcinoma (morphologic abnormality) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of pancreas (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of pancreas (disorder)_Adenosquamous carcinoma |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Primary malignant neoplasm of pancreatic duct |
unknown
|
MGS000022
(TMGS000081) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Squamous cell carcinoma of esophagus (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Small cell carcinoma (morphologic abnormality) |
unknown
|
MGS000024
(TMGS000083) |
Manabu Muto | Kyoto University | ||||
|
Pathogenic
|
Liver |
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
|
Squamous cell carcinoma of esophagus (disorder) |
unknown
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Appendiceal cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
not provided
|
Glioma |
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 | Colorectal |
germline
|
MGS000050
(TMGS000114) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
|
Pathogenic
|
2020/04/20 | upper 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 | stomach, unspecified |
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 | 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 | liver cell carcinoma |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | ampulla of vater |
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 | upper third 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 | lower 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 | 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 | 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 | extrahepatic bile duct |
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 | 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
Likely pathogenic
|
2023-05-11 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome 1 |
unknown
germline
|
Detail |
|
Pathogenic
|
1993-01-01 | no assertion criteria provided | Thyroid gland undifferentiated (anaplastic) carcinoma |
somatic
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-02-14 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-08-15 | criteria provided, multiple submitters, no conflicts | not provided |
unknown
germline
|
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 | gastric 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 | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | B-cell chronic lymphocytic leukemia |
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 | Adrenal cortex carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
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 |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Pathogenic
|
2022-06-06 | criteria provided, single submitter | lung adenocarcinoma |
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 |
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 | glioblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Small cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | medulloblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | acute myeloid leukemia |
somatic
|
Detail |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | Neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Pathogenic
|
2019-08-28 | reviewed by expert panel | Li-Fraumeni syndrome |
unknown
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2021-03-19 | no assertion criteria provided | Neoplasm of ovary |
somatic
|
Detail |
|
Pathogenic
|
2020-09-01 | no assertion criteria provided | rhabdomyosarcoma |
germline
|
Detail |
|
Pathogenic
|
no assertion criteria provided |
unknown
|
Detail | ||
|
Pathogenic
|
2021-03-19 | no assertion criteria provided | colorectal cancer,multiple myeloma |
somatic
|
Detail |
|
Pathogenic
|
2021-03-19 | no assertion criteria provided | colorectal cancer,multiple myeloma |
somatic
|
Detail |
|
Pathogenic
|
2021-03-19 | no assertion criteria provided | Familial cancer of breast |
somatic
|
Detail |
|
Pathogenic
|
2022-03-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer |
unknown
|
Detail |
|
Pathogenic
|
2022-03-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer |
unknown
|
Detail |
|
Pathogenic
|
2022-03-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer |
unknown
|
Detail |
|
Pathogenic
|
2022-03-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer |
unknown
|
Detail |
|
Pathogenic
|
2022-03-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer |
unknown
|
Detail |
|
Pathogenic
|
2022-03-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer |
unknown
|
Detail |
|
Pathogenic
|
2022-03-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer |
unknown
|
Detail |
|
Pathogenic
|
2022-03-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer |
unknown
|
Detail |
|
Pathogenic
|
2022-03-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer |
unknown
|
Detail |
|
Pathogenic
|
2022-03-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer |
unknown
|
Detail |
|
Pathogenic
|
2022-03-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer |
unknown
|
Detail |
|
Pathogenic
|
2022-03-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer |
unknown
|
Detail |
|
Pathogenic
|
2021-07-01 | no assertion criteria provided | Gastric cancer |
germline
|
Detail |
|
Pathogenic
|
2023-07-19 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary |
unknown
|
Detail |
|
Likely pathogenic
|
2023-01-26 | criteria provided, single submitter | Breast and/or ovarian cancer |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
| osteosarcoma | Methotrexate,Doxorubicin | D |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 17363498 | Detail |
| acute myeloid leukemia | D | Functional |
Does Not Support
|
Neomorphic |
Unknown
|
4 | 31395785 | 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 | |
| 0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
| 0.007 | Lichen Sclerosus et Atrophicus | In matched samples, immunohistochemistry evaluation of p53 protein expression re... | BeFree | 17554370 | Detail |
| 0.067 | colon carcinoma | To elucidate whether and how mutant p53 acquires its gain-of-function, mutant p5... | BeFree | 18701504 | Detail |
| <0.001 | Glioma | Overexpression of the paradigmatic p53 mutants p53(R175H), p53(R248W) and p53(R2... | BeFree | 18202704 | Detail |
| <0.001 | Anaplastic thyroid carcinoma | Adoptive overexpression of wild-type p53, but not of its inactive (R248W and R27... | BeFree | 15899946 | Detail |
| 0.059 | Malignant tumor of colon | To elucidate whether and how mutant p53 acquires its gain-of-function, mutant p5... | BeFree | 18701504 | 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 |
| 0.080 | Carcinogenesis | This study has investigated the impact of three specific dominant-negative p53 m... | BeFree | 16723121 | Detail |
| 0.132 | glioblastoma | The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mu... | BeFree | 24399651 | Detail |
| 0.012 | rhabdomyosarcoma | Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the age... | BeFree | 21484931 | Detail |
| 0.003 | Malignant neoplasm of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
| <0.001 | Non-small cell lung carcinoma | The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was up... | BeFree | 21621504 | Detail |
| 0.031 | Osteosarcoma of bone | On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Sa... | BeFree | 17363498 | Detail |
| 0.121 | endometrial carcinoma | To investigate the DN effect on tumor migration and invasion, we generated cells... | BeFree | 17636407 | Detail |
| 0.382 | osteosarcoma | On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Sa... | BeFree | 17363498 | Detail |
| 0.219 | Non-small cell lung carcinoma | The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was up... | BeFree | 21621504 | Detail |
| 0.261 | adrenocortical carcinoma | Although codon 273 is a known hotspot region for p53 mutation, the patient's mut... | BeFree | 16096528 | Detail |
| 0.005 | Malignant neoplasm of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
| 0.369 | Li-Fraumeni syndrome | Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the age... | BeFree | 21484931 | Detail |
| 0.160 | Malignant neoplasm of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
| 0.004 | Carcinoma of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
| 0.002 | Carcinoma of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
| 0.011 | Malignant neoplasm of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
| 0.128 | Anaplastic thyroid carcinoma | NA | CLINVAR | Detail | |
| 0.003 | Carcinoma of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
| 0.017 | Malignant neoplasm of endometrium | To investigate the DN effect on tumor migration and invasion, we generated cells... | BeFree | 17636407 | Detail |
| 0.323 | Neoplasm Metastasis | Taken together, these results suggest that transdominance of R273H mutant over w... | BeFree | 17636407 | Detail |
| 0.017 | uterine corpus cancer | To investigate the DN effect on tumor migration and invasion, we generated cells... | BeFree | 17636407 | Detail |
| 0.080 | Carcinoma of lung | Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... | BeFree | 10226602 | Detail |
| 0.261 | Skin Neoplasms | Here, we show, using conditional mouse technology, that epithelium-specific hete... | BeFree | 17510390 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Breast cancer patients who harbor R273H 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 are... | CIViC Evidence | Detail |
| Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 1... | CIViC Evidence | Detail |
| Several preclinical studies were testing drug resistance mechanisms of TP53-R273H variant. Saos-2 ce... | CIViC Evidence | Detail |
| The R273H mutation was used to create isogenic AML cell lines using MOLM13 and K526 lines. R273H/- c... | CIViC Evidence | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Thyroid gland undifferentiated (anaplastic) carcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND not provided | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Uterine carcinosarcoma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND B-cell chronic lymphocytic leukemia | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Neoplasm of brain | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Adrenal cortex carcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Multiple myeloma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Brainstem glioma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Carcinoma of esophagus | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Glioblastoma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Small cell lung carcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Medulloblastoma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Neoplasm | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Breast neoplasm | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Li-Fraumeni syndrome | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Neoplasm of ovary | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Rhabdomyosarcoma | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Malignant tumor of breast | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Familial cancer of breast | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Gastric cancer | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Adrenocortical carcinoma, hereditary | ClinVar | Detail |
| NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Breast and/or ovarian cancer | ClinVar | Detail |
| The consensus coding sequences of human breast and colorectal cancers. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In matched samples, immunohistochemistry evaluation of p53 protein expression revealed the presence ... | DisGeNET | Detail |
| To elucidate whether and how mutant p53 acquires its gain-of-function, mutant p53 is inducibly knock... | DisGeNET | Detail |
| Overexpression of the paradigmatic p53 mutants p53(R175H), p53(R248W) and p53(R273H) in the p53 null... | DisGeNET | Detail |
| Adoptive overexpression of wild-type p53, but not of its inactive (R248W and R273H) mutants, strongl... | DisGeNET | Detail |
| To elucidate whether and how mutant p53 acquires its gain-of-function, mutant p53 is inducibly knock... | 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 |
| This study has investigated the impact of three specific dominant-negative p53 mutants (F134L, M237L... | DisGeNET | Detail |
| The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mutant glioblastoma. | DisGeNET | Detail |
| Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 2... | DisGeNET | Detail |
| Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
| The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was upregulated in a non-s... | DisGeNET | Detail |
| On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Saos-2 cells down-regu... | DisGeNET | Detail |
| To investigate the DN effect on tumor migration and invasion, we generated cells that stably co-expr... | DisGeNET | Detail |
| On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Saos-2 cells down-regu... | DisGeNET | Detail |
| The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was upregulated in a non-s... | DisGeNET | Detail |
| Although codon 273 is a known hotspot region for p53 mutation, the patient's mutation, R273H, has no... | DisGeNET | Detail |
| Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
| Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 2... | DisGeNET | Detail |
| Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
| Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
| Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
| Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
| To investigate the DN effect on tumor migration and invasion, we generated cells that stably co-expr... | DisGeNET | Detail |
| Taken together, these results suggest that transdominance of R273H mutant over wt p53 rather than a ... | DisGeNET | Detail |
| To investigate the DN effect on tumor migration and invasion, we generated cells that stably co-expr... | DisGeNET | Detail |
| Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... | DisGeNET | Detail |
| Here, we show, using conditional mouse technology, that epithelium-specific heterozygous expression ... | 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
- rs28934576 dbSNP
- Genome
- hg19
- Position
- chr17:7,577,120-7,577,120
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8072
- 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)
- 114148
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.628166941164103E-5
- Variant (CIViC) (CIViC Variant)
- R273H
- Transcript 1 (CIViC Variant)
- ENST00000269305.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/122
- 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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