chr17:7577548:C>A Detail (hg19) (TP53)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:7,577,548-7,577,548 |
| hg38 | chr17:7,674,230-7,674,230 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000546.5:c.733G>T | NP_000537.3:p.Gly245Cys |
| NM_001126112.2:c.733G>T | NP_001119584.1:p.Gly245Cys | |
| NM_001276760.1:c.733G>T | NP_001263689.1:p.Gly245Cys |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 31 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
Pathogenic
|
Primary malignant neoplasm of hypopharynx (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
ill-defined sites within the digestive system |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
head of pancreas |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2024-02-16 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
2019-08-13 | criteria provided, single submitter | not provided |
germline
|
Detail |
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung 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 | ovarian serous cystadenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | glioblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
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 | Carcinoma of esophagus |
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 | hepatocellular carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Pathogenic
|
2022-06-18 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-12-17 | criteria provided, single submitter | Li-Fraumeni syndrome |
germline
|
Detail |
|
Pathogenic
|
2019-06-11 | no assertion criteria provided | Breast and/or ovarian cancer |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.441 | Li-Fraumeni syndrome 1 | NA | CLINVAR | Detail | |
| 0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
| 0.369 | Li-Fraumeni syndrome | NA | CLINVAR | Detail | |
| 0.126 | Li-fraumeni-like syndrome | NA | CLINVAR | Detail | |
| 0.382 | osteosarcoma | NA | CLINVAR | Detail | |
| 0.441 | Li-Fraumeni syndrome 1 | Molecular analysis of the TP53 gene in Barrett's adenocarcinoma. | UNIPROT | 8829627 | Detail |
| 0.511 | adenocarcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND not provided | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Uterine carcinosarcoma | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Breast neoplasm | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Glioblastoma | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Brainstem glioma | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Carcinoma of esophagus | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Neoplasm of brain | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Li-Fraumeni syndrome | ClinVar | Detail |
| NM_000546.6(TP53):c.733G>T (p.Gly245Cys) AND Breast and/or ovarian cancer | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Molecular analysis of the TP53 gene in Barrett's adenocarcinoma. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs28934575 dbSNP
- Genome
- hg19
- Position
- chr17:7,577,548-7,577,548
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser