chr17:7674250:C>T Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,568-7,577,568 View the variant detail on this assembly version. |
hg38 | chr17:7,674,250-7,674,250 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.713G>A | NP_000537.3:p.Cys238Tyr |
NM_001126112.2:c.713G>A | NP_001119584.1:p.Cys238Tyr | |
NM_001276760.1:c.713G>A | NP_001263689.1:p.Cys238Tyr |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
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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2017/07/27 | Mixed adenoneuroendocrine carcinoma |
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MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-06-08 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-12-12 | criteria provided, single submitter | Li-Fraumeni syndrome |
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Detail |
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2021-11-24 | criteria provided, single submitter | not provided |
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Detail |
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2016-05-31 | no assertion criteria provided | Carcinoma of esophagus |
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Detail |
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2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
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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 |
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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 brain |
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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 | B-cell chronic lymphocytic leukemia |
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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 | glioblastoma |
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Detail |
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2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
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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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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 | multiple myeloma |
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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 | Neoplasm of uterine cervix |
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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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2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
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Detail |
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2020-10-30 | no assertion criteria provided | gallbladder cancer |
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Detail |
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2024-02-16 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome 1 |
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Detail |
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2023-08-08 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
breast cancer | E |
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Poor Outcome | Somatic | 3 | 11051239 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.369 | Li-Fraumeni syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Cys-238 was directly bound to zinc molecule. Patients with missense mutations affecting amino acids ... | CIViC Evidence | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Carcinoma of esophagus | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Breast neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Neoplasm of brain | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND B-cell chronic lymphocytic leukemia | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Glioblastoma | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Uterine carcinosarcoma | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Pancreatic adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Multiple myeloma | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Neoplasm of uterine cervix | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Neoplasm of ovary | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Gallbladder cancer | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Adrenocortical carcinoma, hereditary | 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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs730882005 dbSNP
- Genome
- hg38
- Position
- chr17:7,674,250-7,674,250
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs730882005
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8650
- 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)
- 121356
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6480437720425855E-5
- Variant (CIViC) (CIViC Variant)
- C238Y
- Transcript 1 (CIViC Variant)
- ENST00000269305.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2648
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