chr17:7577535:C>G Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,535-7,577,535 |
hg38 | chr17:7,674,217-7,674,217 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.746G>C | NP_000537.3:p.Arg249Thr |
NM_001126112.2:c.746G>C | NP_001119584.1:p.Arg249Thr | |
NM_001276760.1:c.746G>C | NP_001263689.1:p.Arg249Thr |
Summary
MGeND
Clinical significance |
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Variant entry | 5 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
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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colon, unspecified |
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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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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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2016-05-31 | no assertion criteria provided | medulloblastoma |
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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 | ovarian serous cystadenocarcinoma |
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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 | Malignant neoplasm of body of uterus |
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Detail |
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2016-03-10 | no assertion provided | Breast neoplasm |
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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 | pancreatic adenocarcinoma |
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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 |
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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 | gastric adenocarcinoma |
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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 | Small cell lung carcinoma |
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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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2014-10-02 | no assertion criteria provided | acute myeloid leukemia |
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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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2020-12-01 | criteria provided, single submitter | not provided |
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Detail |
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2020-10-16 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-02-16 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
breast cancer | B |
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Poor Outcome | Somatic | 3 | 9569050 | Detail | |
breast cancer | Doxorubicin | B |
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Sensitivity/Response | Somatic | 3 | 9569050 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
In breast cancer patients harboring TP53 mutation, mutations in conserved regions such as R249 are p... | CIViC Evidence | Detail |
Breast tumors with R175H or R249 mutations are more responsive to doxorubicin than breast tumors wit... | CIViC Evidence | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Medulloblastoma | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Glioblastoma | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Squamous cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Breast neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Pancreatic adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Squamous cell carcinoma of the skin | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Uterine carcinosarcoma | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Small cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Carcinoma of esophagus | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Acute myeloid leukemia | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) AND Li-Fraumeni syndrome 1 | ClinVar | 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
- rs587782329 dbSNP
- Genome
- hg19
- Position
- chr17:7,577,535-7,577,535
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- R249
- Transcript 1 (CIViC Variant)
- ENST00000269305.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/119
- Summary (CIViC Variant)
- This mutant is also more responsive to treatment with doxorubicin than its wild-type counterparts. While the prognostic impact of individual TP53 mutations is influenced by the cohort being studied, it has been suggested that the R249 mutants have been correlated with worse overall survival in breast cancer patients when compared to wild-type.
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