chr17:7578442:T>C Detail (hg19) (TP53)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:7,578,442-7,578,442 |
| hg38 | chr17:7,675,124-7,675,124 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001126116.1:c.92A>G | NP_001119588.1:p.Tyr31Cys |
| NM_001276698.1:c.92A>G | NP_001263627.1:p.Tyr31Cys | |
| NM_000546.5:c.488A>G | NP_000537.3:p.Tyr163Cys |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 67 |
| 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 | pyloric antrum |
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 | 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 | extrahepatic bile duct |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
Primary malignant neoplasm of the peritoneum (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
Pathogenic
|
Ovary |
somatic
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
Pathogenic
|
Adenocarcinoma of stomach (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
Pathogenic
|
Carcinoma of pancreas (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
Pathogenic
|
Adenocarcinoma of pancreas |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Breast 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
|
|||
|
not provided
|
Ovarian cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
not provided
|
lung cancer |
somatic
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
|
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 | 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 | 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 | 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 | 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 | 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 | intrahepatic bile duct carcinoma |
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
|
2022-03-02 | criteria provided, single submitter | not provided |
germline
|
Detail |
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Small cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
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 | lung adenocarcinoma |
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 |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | ovarian serous cystadenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of brain |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Pathogenic
|
2021-02-09 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2019-08-28 | reviewed by expert panel | Li-Fraumeni syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
somatic
|
Detail |
|
Pathogenic
|
2024-02-14 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | 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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND not provided | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Small cell lung carcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Uterine carcinosarcoma | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Breast neoplasm | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Carcinoma of esophagus | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Brainstem glioma | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Neoplasm of brain | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Li-Fraumeni syndrome | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Neoplasm of ovary | ClinVar | Detail |
| NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
| NA | 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 |
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
- rs148924904 dbSNP
- Genome
- hg19
- Position
- chr17:7,578,442-7,578,442
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
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