chr17:7674217:C>G Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,535-7,577,535 View the variant detail on this assembly version.
hg38 chr17:7,674,217-7,674,217

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
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 191170 OMIM
HGNC 11998 HGNC
Ensembl ENSG00000141510 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM3403260 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-05-31 no assertion criteria provided medulloblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided ovarian serous cystadenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
not provided 2016-03-10 no assertion provided Breast neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell carcinoma of the head and neck somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided pancreatic adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Small cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Carcinoma of esophagus somatic Detail
Likely pathogenic 2014-10-02 no assertion criteria provided acute myeloid leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Pathogenic 2020-12-01 criteria provided, single submitter not provided germline Detail
Pathogenic 2020-10-16 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2024-02-16 criteria provided, single submitter Li-Fraumeni syndrome 1 unknown Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
breast cancer B Prognostic Supports Poor Outcome Somatic 3 9569050 Detail
breast cancer Doxorubicin B Predictive Supports Sensitivity/Response Somatic 3 9569050 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
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
hg38
Position
chr17:7,674,217-7,674,217
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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