chr17:7668402:> Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,571,720-7,590,856 
hg38 chr17:7,668,402-7,687,538

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 26771088 Detail
adrenocortical carcinoma B Prognostic Supports Poor Outcome Somatic 2 15922892 Detail
lung non-small cell carcinoma Docetaxel,Selumetinib D Predictive Supports Sensitivity/Response Somatic 3 22425996 Detail
lung non-small cell carcinoma Docetaxel D Predictive Supports Resistance Somatic 3 22425996 Detail
lung non-small cell carcinoma B Prognostic Does Not Support Poor Outcome Somatic 4 26899019 Detail
lung non-small cell carcinoma Adjuvant Chemotherapy B Predictive Does Not Support Sensitivity/Response Somatic 2 26899019 Detail
sarcoma Pazopanib B Predictive Supports Sensitivity/Response Somatic 2 26646755 Detail
chronic lymphocytic leukemia B Prognostic Supports Poor Outcome Somatic 3 8241511 Detail
chronic lymphocytic leukemia B Prognostic Supports Poor Outcome Somatic 4 18689542 Detail
chronic lymphocytic leukemia B Prognostic Supports Poor Outcome Somatic 5 20697090 Detail
chronic lymphocytic leukemia B Prognostic Supports Poor Outcome Somatic 3 21483000 Detail
chronic lymphocytic leukemia Alemtuzumab B Predictive Supports Sensitivity/Response Somatic 2 14726385 Detail
chronic lymphocytic leukemia B Prognostic Supports Poor Outcome Somatic 5 24943832 Detail
chronic lymphocytic leukemia A Prognostic Supports Poor Outcome Somatic 5 26837699 Detail
breast cancer Tamoxifen C Predictive Supports Resistance Somatic 1 10786679 Detail
stomach carcinoma Cisplatin,Doxorubicin,Etoposide C Predictive Supports Sensitivity/Response Somatic 1 14514923 Detail
leukemia RG7112 B Predictive Supports Resistance Somatic 3 26459177 Detail
cancer AMGMDS3 D Predictive Supports Resistance Somatic 4 25730903 Detail
cancer Nutlin-3a D Predictive Supports Resistance Somatic 4 17671205 Detail
lung non-small cell carcinoma B Prognostic Supports N/A Somatic 5 28453411 Detail
head and neck squamous cell carcinoma B Prognostic Supports Poor Outcome Somatic 3 22090360 Detail
head and neck squamous cell carcinoma B Prognostic Does Not Support Poor Outcome Somatic 3 8901856 Detail
esophagus squamous cell carcinoma B Prognostic Supports Poor Outcome Somatic 4 19941080 Detail
obsolete precursor B lymphoblastic lymphoma/leukemia B Prognostic Supports Poor Outcome Somatic 4 22699455 Detail
myelodysplastic syndrome B Prognostic Supports Poor Outcome Somatic 4 24836762 Detail
myeloid neoplasm B Prognostic Supports Poor Outcome Somatic 4 17215851 Detail
head and neck squamous cell carcinoma B Prognostic Does Not Support Poor Outcome Somatic 4 11325447 Detail
head and neck squamous cell carcinoma B Prognostic Supports Poor Outcome Somatic 4 11325447 Detail
obsolete precursor B lymphoblastic lymphoma/leukemia B Prognostic Supports Poor Outcome Somatic 4 21747090 Detail
gastric adenocarcinoma Chemotherapy B Predictive Supports Sensitivity/Response Somatic 3 24740294 Detail
breast cancer Doxorubicin D Predictive Supports Sensitivity/Response Somatic 4 22698404 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In a study of 97 patients with AML treated with HSCT, 40 had TP53 mutations comprising a total of 4... CIViC Evidence Detail
TP53 mutation was shown to be associated with shorter overall survival in patients with adrenocortic... CIViC Evidence Detail
A clinical trial comparing selumetinib and docetaxel vs. docetaxel and placebo in KRAS mutant NSCLC ... CIViC Evidence Detail
A clinical trial comparing selumetinib and docetaxel vs. docetaxel and placebo in KRAS mutant NSCLC ... CIViC Evidence Detail
Pooled analysis of TP53 mutations (exons 5-8) from 4 randomized trials (IALT, JBR10, CALGB-9633 and ... CIViC Evidence Detail
Pooled analysis of TP53 mutations (exons 5-8) from 4 randomized trials (IALT, JBR10, CALGB-9633 and ... CIViC Evidence Detail
19 advanced sarcoma patients treated with pazopanib were retrospectively assessed for mutations asso... CIViC Evidence Detail
A study of 53 patients with B-CLL found a significant resistance to chemotherapy and corresponding p... CIViC Evidence Detail
In a study of 126 patients with long-term follow-up, TP53 mutations were significantly associated wi... CIViC Evidence Detail
The authors analyzed 328 patients with CLL, of which 28 were identified to have TP53 mutations. Pati... CIViC Evidence Detail
In the CLL4 trial assessing first line treatment with chlorambucil or fludarabine with or without cy... CIViC Evidence Detail
Thirty-six patients with CLL were treated with alemtuzumab. Partial or complete response was achieve... CIViC Evidence Detail
In a multivariate analysis of 774 CLL patients, TP53 aberrations were significantly correlated with ... CIViC Evidence Detail
In a cohort of 406 patients with CLL, those patients with clonal or sub-clonal mutations in TP53 had... CIViC Evidence Detail
In a study 202 breast cancer patients undergoing tamoxifen treatment, a higher frequency of wildtype... CIViC Evidence Detail
In a study of 25 patients with advanced gastric cancer, mutations in TP53 were identified in 32% of ... CIViC Evidence Detail
Phase I Trial of MDM2 inhibitor RG7112 in 116 patients with AML, ALL, CML, CLL, sCLL demonstrated su... CIViC Evidence Detail
MDM2 Inhibitor screen in a panel of 260 cancer cell lines with well characterized TP53 status shows ... CIViC Evidence Detail
MDM2 Inhibitor Nutlin-3a induced senescence in presence of functional TP53 in murine primary fibrobl... CIViC Evidence Detail
A pooled analysis to investigate the prognostic and predictive roles of TP53/KRAS and TP53/EGFR comu... CIViC Evidence Detail
In a study of 74 patients with head and neck squamous cell carcinoma, those with disruptive mutation... CIViC Evidence Detail
Unlike other studies, in this study of 110 patients with head and neck squamous cell carcinoma, ther... CIViC Evidence Detail
In a retrospective study of patients with esophageal carcinoma, those with mutations in TP53 had wor... CIViC Evidence Detail
In children with bone marrow relapsed B-cell precursor acute lymphoblastic leukemia, in multivariate... CIViC Evidence Detail
In patients with myelodysplastic syndrome, in a multivariate analysis those with mutations in TP53 h... CIViC Evidence Detail
In patients with myeloma, those with mutations in TP53 had worse overall survival than those without... CIViC Evidence Detail
Tumors from 114 patients with head and neck squamous cell carcinoma were analyzed for TP53 mutations... CIViC Evidence Detail
Tumors from 114 patients with head and neck squamous cell carcinoma were analyzed for TP53 mutations... CIViC Evidence Detail
In relapsed B-ALL patients, TP53 mutations were associated with morphologic nonresponse to therapy (... CIViC Evidence Detail
In this meta-analysis of 13 studies (564 patients) p53 positivity as defined by high protein express... CIViC Evidence Detail
In this preclinical study, MMTV-Wnt1 mammary tumors with mutant TP53 showed a better clinical respon... CIViC Evidence 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
-
Genome
hg38
Position
chr17:7,668,402-7,687,538
Variant Type
snv
Variant (CIViC) (CIViC Variant)
DELETERIOUS MUTATION
Transcript 1 (CIViC Variant)
ENST00000269305.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/221
Summary (CIViC Variant)
Deleterious mutations are mutations of TP53 with prior characterization demonstrating significant deleterious effect on TP53 protein function. Inactivating TP53 mutations prevent on target activity and efficacy of MDM2-TP53 interaction inhibitors.
Variant (CIViC) (CIViC Variant)
MUTATION
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/222
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