chr17:7574003:G>A Detail (hg19) (TP53)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:7,574,003-7,574,003 |
| hg38 | chr17:7,670,685-7,670,685 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001126113.2:c.*43C>T | |
| NM_001276695.1:c.*43C>T | ||
| NM_001126116.1:c.*131C>T |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 123 |
| GWAS entry | |
| Disease area statistics | Show details |
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 | lower third of oesophagus |
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 | 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 | 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 | ill-defined sites within the digestive system |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2019/03/05 | mediastinum |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2019/03/05 | malignant neoplasm of thyroid gland |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2019/03/05 | breast, unspecified |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
not provided
|
Myelodysplastic syndromes |
somatic
|
MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
|
Pathogenic
|
Primary adenocarcinoma of colon (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
Pathogenic
|
Neoplasm of ovary (disorder) |
unknown
|
MGS000022
(TMGS000081) |
Manabu Muto | Kyoto University | ||||
|
Pathogenic
|
Sarcoma of uterus (disorder) |
unknown
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Hepatocellular carcinoma |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
not provided
|
Bone sarcoma |
germline
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
not provided
|
pancreatic cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
Pathogenic
|
2020/04/20 | body of stomach |
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 | 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 | extrahepatic bile duct |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | head of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | 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 | 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 | 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 | 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 |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2022-06-18 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-03-31 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2024-03-25 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome |
germline
|
Detail |
|
Pathogenic
|
2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
somatic
|
Detail |
|
Pathogenic
|
2020-10-30 | no assertion criteria provided | gallbladder cancer |
somatic
|
Detail |
|
Pathogenic
|
2021-08-09 | no assertion criteria provided |
germline
|
Detail | |
|
Pathogenic
|
2024-02-21 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
2021-07-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma |
unknown
|
Detail |
|
Pathogenic
|
2021-07-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma |
unknown
|
Detail |
|
Pathogenic
|
2021-07-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma |
unknown
|
Detail |
|
Pathogenic
|
2021-07-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma |
unknown
|
Detail |
|
Pathogenic
|
2021-07-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma |
unknown
|
Detail |
|
Pathogenic
|
2021-07-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma |
unknown
|
Detail |
|
Pathogenic
|
2021-07-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma |
unknown
|
Detail |
|
Pathogenic
|
2021-07-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma |
unknown
|
Detail |
|
Pathogenic
|
2021-07-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma |
unknown
|
Detail |
|
Pathogenic
|
2021-07-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma |
unknown
|
Detail |
|
Pathogenic
|
2021-07-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma |
unknown
|
Detail |
|
Pathogenic
|
2021-07-14 | criteria provided, single submitter | Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma |
unknown
|
Detail |
|
Pathogenic
|
2022-10-28 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND not provided | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND Li-Fraumeni syndrome | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND Neoplasm of ovary | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND Gallbladder cancer | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND Colonic diverticula | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions | ClinVar | Detail |
| NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND Adrenocortical carcinoma, hereditary | ClinVar | 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
- rs730882029 dbSNP
- Genome
- hg19
- Position
- chr17:7,574,003-7,574,003
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser