chr17:7577124:C>T Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,124-7,577,124 |
hg38 | chr17:7,673,806-7,673,806 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001126116.1:c.418G>A | NP_001119588.1:p.Val140Met |
NM_001276698.1:c.418G>A | NP_001263627.1:p.Val140Met | |
NM_001126113.2:c.814G>A | NP_001119585.1:p.Val272Met |
Summary
MGeND
Clinical significance |
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Variant entry | 45 |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
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bronchus or lung, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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upper third of oesophagus |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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middle third of oesophagus |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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fundus of stomach |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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body of stomach |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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sigmoid colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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colon, unspecified |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectosigmoid junction |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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extrahepatic bile duct |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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head of pancreas |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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Myelodysplastic syndromes |
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MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
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Tumors of unknown primary site |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
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Skin cancer |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
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Endometrial cancer |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
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2021/03/19 | Colorectal |
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MGS000050
(TMGS000114) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
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upper third of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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fundus of stomach |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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sigmoid colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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colon, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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extrahepatic bile duct |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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head of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ill-defined sites within the digestive system |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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fundus of stomach |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectosigmoid junction |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-01-10 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma type 1 |
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Detail |
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2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | ovarian serous cystadenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided |
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Detail | |
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2016-05-31 | no assertion criteria provided |
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Detail | |
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2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
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Detail |
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2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
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Detail |
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2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | medulloblastoma |
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Detail |
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2016-05-31 | no assertion criteria provided | multiple myeloma |
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Detail |
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2016-05-31 | no assertion criteria provided | Breast neoplasm |
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Detail |
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2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
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Detail |
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2023-10-24 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome |
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Detail |
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2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
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Detail |
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2022-03-18 | reviewed by expert panel | Li-Fraumeni syndrome 1 |
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Detail |
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2023-04-11 | criteria provided, single submitter | not provided |
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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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Pancreatic adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Squamous cell carcinoma of the skin | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Medulloblastoma | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Multiple myeloma | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Breast neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Neoplasm of ovary | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.814G>A (p.Val272Met) AND not provided | ClinVar | Detail |
NA | 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
- rs121912657 dbSNP
- Genome
- hg19
- Position
- chr17:7,577,124-7,577,124
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 7890
- 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)
- 111820
- 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)
- 2.6828832051511357E-5
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