chr17:7674872:T>G Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,190-7,578,190 View the variant detail on this assembly version. |
hg38 | chr17:7,674,872-7,674,872 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.659A>C | NP_000537.3:p.Tyr220Ser |
NM_001126112.2:c.659A>C | NP_001119584.1:p.Tyr220Ser | |
NM_001276760.1:c.659A>C | NP_001263689.1:p.Tyr220Ser |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2017/08/10 | Spindle cell sarcoma |
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MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University | |||
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salivary gland neoplasms |
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MGS000044
(TMGS000097) |
Kohei Miyazono | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-02-15 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
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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 | Squamous cell lung 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 | hepatocellular carcinoma |
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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 | Squamous cell carcinoma of the head and neck |
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Detail |
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2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
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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 | Small cell lung carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
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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 | Malignant neoplasm of body of uterus |
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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 | Papillary renal cell carcinoma, sporadic |
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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 | Neoplasm of brain |
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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 | gastric adenocarcinoma |
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Detail |
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2022-03-19 | criteria provided, single submitter | 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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2022-11-11 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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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 | |
0.369 | Li-Fraumeni syndrome | The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA f... | BeFree | 15977174 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Squamous cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Pancreatic adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Breast neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Small cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Malignant melanoma of skin | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Uterine carcinosarcoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Papillary renal cell carcinoma, sporadic | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Neoplasm of brain | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Glioblastoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Neoplasm of ovary | ClinVar | Detail |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients... | 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
- rs121912666 dbSNP
- Genome
- hg38
- Position
- chr17:7,674,872-7,674,872
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
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