chr17:7674220:C>T Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,538-7,577,538 View the variant detail on this assembly version.
hg38 chr17:7,674,220-7,674,220

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.743G>A NP_000537.3:p.Arg248Gln
NM_001126112.2:c.743G>A NP_001119584.1:p.Arg248Gln
NM_001276760.1:c.743G>A NP_001263689.1:p.Arg248Gln
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 7
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance 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 tgv56957045 TogoVar
COSMIC COSM3356964 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic 2017/07/06 Pleomorphic liposarcoma somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Likely pathogenic 2017/08/10 mediastinal adenocarcinoma somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Likely pathogenic 2018/01/11 Rectal cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Likely pathogenic 2018/02/08 squamous cell carcinoma (metastasis) somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Likely pathogenic 2018/02/08 Rectal cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Likely pathogenic 2018/04/26 Ovarian cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Likely pathogenic 2018/04/12 colon cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-04-12 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 unknown germline maternal Detail
Pathogenic Likely pathogenic 2022-11-01 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2014-06-01 no assertion criteria provided sarcoma germline Detail
Pathogenic 2019-08-28 reviewed by expert panel Li-Fraumeni syndrome germline unknown Detail
Pathogenic Likely pathogenic 2023-08-15 criteria provided, multiple submitters, no conflicts not provided unknown germline Detail
Likely pathogenic 2016-05-31 no assertion criteria provided acute myeloid leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm 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 Malignant melanoma of skin 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 Neoplasm of the large intestine somatic Detail
Likely pathogenic 2019-08-31 no assertion criteria provided multiple myeloma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of brain somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided medulloblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided B-cell chronic lymphocytic leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Carcinoma of esophagus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided myelodysplastic syndrome somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided pancreatic adenocarcinoma 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 Squamous cell carcinoma of the head and neck somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Pathogenic 2018-10-31 criteria provided, single submitter Li-Fraumeni syndrome 1,Glioma susceptibility 1,Basal cell carcinoma, susceptibility to, 7,choroid plexus papilloma,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,Carcinoma of colon,Familial cancer of breast,bone osteosarcoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Li-Fraumeni syndrome 1,Glioma susceptibility 1,Basal cell carcinoma, susceptibility to, 7,choroid plexus papilloma,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,Carcinoma of colon,Familial cancer of breast,bone osteosarcoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Li-Fraumeni syndrome 1,Glioma susceptibility 1,Basal cell carcinoma, susceptibility to, 7,choroid plexus papilloma,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,Carcinoma of colon,Familial cancer of breast,bone osteosarcoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Li-Fraumeni syndrome 1,Glioma susceptibility 1,Basal cell carcinoma, susceptibility to, 7,choroid plexus papilloma,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,Carcinoma of colon,Familial cancer of breast,bone osteosarcoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Li-Fraumeni syndrome 1,Glioma susceptibility 1,Basal cell carcinoma, susceptibility to, 7,choroid plexus papilloma,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,Carcinoma of colon,Familial cancer of breast,bone osteosarcoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Li-Fraumeni syndrome 1,Glioma susceptibility 1,Basal cell carcinoma, susceptibility to, 7,choroid plexus papilloma,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,Carcinoma of colon,Familial cancer of breast,bone osteosarcoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Li-Fraumeni syndrome 1,Glioma susceptibility 1,Basal cell carcinoma, susceptibility to, 7,choroid plexus papilloma,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,Carcinoma of colon,Familial cancer of breast,bone osteosarcoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Li-Fraumeni syndrome 1,Glioma susceptibility 1,Basal cell carcinoma, susceptibility to, 7,choroid plexus papilloma,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,Carcinoma of colon,Familial cancer of breast,bone osteosarcoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Li-Fraumeni syndrome 1,Glioma susceptibility 1,Basal cell carcinoma, susceptibility to, 7,choroid plexus papilloma,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,Carcinoma of colon,Familial cancer of breast,bone osteosarcoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Li-Fraumeni syndrome 1,Glioma susceptibility 1,Basal cell carcinoma, susceptibility to, 7,choroid plexus papilloma,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,Carcinoma of colon,Familial cancer of breast,bone osteosarcoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Li-Fraumeni syndrome 1,Glioma susceptibility 1,Basal cell carcinoma, susceptibility to, 7,choroid plexus papilloma,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Carcinoma of pancreas,Carcinoma of colon,Familial cancer of breast,bone osteosarcoma unknown Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Likely pathogenic 2019-07-25 no assertion criteria provided lymphoma somatic Detail
Pathogenic 2019-04-30 no assertion criteria provided Lip and oral cavity carcinoma somatic Detail
Pathogenic 2020-09-01 no assertion criteria provided rhabdomyosarcoma germline Detail
Pathogenic criteria provided, single submitter Familial cancer of breast somatic Detail
Pathogenic 2021-03-19 no assertion criteria provided de novo Detail
Pathogenic 2021-08-08 no assertion criteria provided breast carcinoma germline Detail
Pathogenic 2016-04-12 no assertion criteria provided colorectal cancer somatic Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic no assertion criteria provided Malignant tumor of urinary bladder somatic Detail
Pathogenic 2023-07-20 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
Likely pathogenic no assertion criteria provided Adrenal cortex carcinoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer AMGMDS3 D Predictive Supports Resistance Somatic 4 25730903 Detail
breast cancer B Prognostic Supports Poor Outcome Somatic 3 16489069 Detail
breast cancer B Prognostic Supports Poor Outcome Somatic 3 9569050 Detail
lymphoma D Predisposing Supports Likely Pathogenic Rare Germline 4 23538418 Detail
acute myeloid leukemia D Functional Supports Dominant Negative Unknown 4 31395785 Detail
acute myeloid leukemia D Functional Does Not Support Neomorphic Unknown 4 31395785 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 Li-Fraumeni syndrome 1 The consensus coding sequences of human breast and colorectal cancers. UNIPROT 16959974 Detail
0.080 Carcinoma of lung Mutant p53 R248Q but not R248W enhances in vitro invasiveness of human lung canc... BeFree 21187651 Detail
0.441 Li-Fraumeni syndrome 1 NA CLINVAR Detail
0.120 Li-Fraumeni syndrome 2 NA CLINVAR Detail
0.382 osteosarcoma Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H,... BeFree 16778209 Detail
0.400 sarcoma NA CLINVAR Detail
0.160 Malignant neoplasm of lung Mutant p53 R248Q but not R248W enhances in vitro invasiveness of human lung canc... BeFree 21187651 Detail
0.080 Carcinogenesis P53 mutation plays a pivotal role in tumorigenesis of endometrial cancer (EC), h... BeFree 25697482 Detail
<0.001 Carcinogenesis P53 mutation plays a pivotal role in tumorigenesis of endometrial cancer (EC), h... BeFree 25697482 Detail
0.014 Glioblastoma multiforme Genomic sequencing revealed a single nucleotide variant, p.R248Q in exon 7 of TP... BeFree 24768217 Detail
<0.001 uterine corpus cancer Our data suggest that REGγ is a promising therapeutic target for EC with the p53... BeFree 25697482 Detail
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.031 Osteosarcoma of bone Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H,... BeFree 16778209 Detail
0.017 Malignant neoplasm of endometrium Mutant p53 (p53-R248Q) functions as an oncogene in promoting endometrial cancer ... BeFree 25697482 Detail
<0.001 Malignant neoplasm of endometrium Our data suggest that REGγ is a promising therapeutic target for EC with the p53... BeFree 25697482 Detail
0.017 uterine corpus cancer Mutant p53 (p53-R248Q) functions as an oncogene in promoting endometrial cancer ... BeFree 25697482 Detail
0.121 endometrial carcinoma Mutant p53 (p53-R248Q) functions as an oncogene in promoting endometrial cancer ... BeFree 25697482 Detail
0.369 Li-Fraumeni syndrome NA CLINVAR Detail
<0.001 endometrial carcinoma Our data suggest that REGγ is a promising therapeutic target for EC with the p53... BeFree 25697482 Detail
Annotation

Annotations

DescrptionSourceLinks
Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 1... CIViC Evidence Detail
Breast cancer patients who harbor a R248Q mutation (N=18) have worse overall survival than those wit... CIViC Evidence Detail
In breast cancer patients harboring TP53 mutation, mutations in DNA contact regions such as R248 are... CIViC Evidence Detail
In mouse models, the R248Q variant had accelerated onset of all tumor types and accelerated death ra... CIViC Evidence Detail
R248Q mutation was used to create five isogenic MOLM13-TP53 AML cell lines: p53+/+, p53+/-, p53-/-, ... CIViC Evidence Detail
The R248Q mutation was used to create isogenic AML cell lines using MOLM13 and K526 lines. R248Q/- c... CIViC Evidence Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Sarcoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND not provided ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Acute myeloid leukemia ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Small cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Malignant melanoma of skin ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Neoplasm of the large intestine ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Multiple myeloma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Prostate adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Neoplasm of brain ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Neoplasm ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Medulloblastoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Gastric adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Squamous cell carcinoma of the skin ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Uterine carcinosarcoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Brainstem glioma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Carcinoma of esophagus ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Myelodysplastic syndrome ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Pancreatic adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Squamous cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Lung adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Glioblastoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Lymphoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Lip and oral cavity carcinoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Rhabdomyosarcoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Familial cancer of breast ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Ductal carcinoma in situ ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Breast carcinoma ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Colorectal cancer ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Gastric cancer ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Malignant tumor of urinary bladder ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Adrenocortical carcinoma, hereditary ClinVar Detail
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Adrenal cortex carcinoma ClinVar Detail
The consensus coding sequences of human breast and colorectal cancers. DisGeNET Detail
Mutant p53 R248Q but not R248W enhances in vitro invasiveness of human lung cancer NCI-H1299 cells. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were es... DisGeNET Detail
NA DisGeNET Detail
Mutant p53 R248Q but not R248W enhances in vitro invasiveness of human lung cancer NCI-H1299 cells. DisGeNET Detail
P53 mutation plays a pivotal role in tumorigenesis of endometrial cancer (EC), here we report that t... DisGeNET Detail
P53 mutation plays a pivotal role in tumorigenesis of endometrial cancer (EC), here we report that t... DisGeNET Detail
Genomic sequencing revealed a single nucleotide variant, p.R248Q in exon 7 of TP53, in the primary d... DisGeNET Detail
Our data suggest that REGγ is a promising therapeutic target for EC with the p53-R248Q mutation. DisGeNET Detail
NA DisGeNET Detail
Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were es... DisGeNET Detail
Mutant p53 (p53-R248Q) functions as an oncogene in promoting endometrial cancer by up-regulating REG... DisGeNET Detail
Our data suggest that REGγ is a promising therapeutic target for EC with the p53-R248Q mutation. DisGeNET Detail
Mutant p53 (p53-R248Q) functions as an oncogene in promoting endometrial cancer by up-regulating REG... DisGeNET Detail
Mutant p53 (p53-R248Q) functions as an oncogene in promoting endometrial cancer by up-regulating REG... DisGeNET Detail
NA DisGeNET Detail
Our data suggest that REGγ is a promising therapeutic target for EC with the p53-R248Q mutation. 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
rs11540652 dbSNP
Genome
hg38
Position
chr17:7,674,220-7,674,220
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.311604253351826E-4
Chromosome Counts in All Race (ExAC)
121364
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.767772980455489E-5
Transcript 1 (CIViC Variant)
ENST00000269305.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/117
Variant (CIViC) (CIViC Variant)
R248Q
Summary (CIViC Variant)
While loss-of-function events in TP53 are very common in cancer, the R248 variants seem not only to result in loss of tumor-suppression, but also act as a gain-of-function mutation that can promote tumorigenesis in mouse models. 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, R248 mutations have been shown to confer worse overall survival. The R248Q mutation has also shown an increased invasive behavior in cell lines. This is specific to the 248Q variant.
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