ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
Variation ID: 133284 Accession: VCV000133284.37
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17p13.1 17: 7675152 (GRCh38) [ NCBI UCSC ] 17: 7578470 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jun 9, 2014 May 1, 2024 Feb 5, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000546.6:c.460G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Gly154Ser missense NM_001126112.3:c.460G>A NP_001119584.1:p.Gly154Ser missense NM_001126113.3:c.460G>A NP_001119585.1:p.Gly154Ser missense NM_001126114.3:c.460G>A NP_001119586.1:p.Gly154Ser missense NM_001126115.2:c.64G>A NP_001119587.1:p.Gly22Ser missense NM_001126116.2:c.64G>A NP_001119588.1:p.Gly22Ser missense NM_001126117.2:c.64G>A NP_001119589.1:p.Gly22Ser missense NM_001126118.2:c.343G>A NP_001119590.1:p.Gly115Ser missense NM_001276695.3:c.343G>A NP_001263624.1:p.Gly115Ser missense NM_001276696.3:c.343G>A NP_001263625.1:p.Gly115Ser missense NM_001276697.3:c.-18G>A 5 prime UTR NM_001276698.3:c.-18G>A 5 prime UTR NM_001276699.3:c.-18G>A 5 prime UTR NM_001276760.3:c.343G>A NP_001263689.1:p.Gly115Ser missense NM_001276761.3:c.343G>A NP_001263690.1:p.Gly115Ser missense NC_000017.11:g.7675152C>T NC_000017.10:g.7578470C>T NG_017013.2:g.17399G>A LRG_321:g.17399G>A LRG_321t1:c.460G>A LRG_321p1:p.Gly154Ser P04637:p.Gly154Ser - Protein change
- G115S, G154S, G22S
- Other names
- -
- Canonical SPDI
- NC_000017.11:7675151:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00004
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3307 | 3402 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
not provided (1) |
no classification provided
|
- | RCV000119797.2 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
Nov 20, 2023 | RCV000206813.13 | |
Uncertain significance (3) |
criteria provided, multiple submitters, no conflicts
|
Oct 13, 2023 | RCV000986050.8 | |
Pathogenic (1) |
no assertion criteria provided
|
- | RCV003332120.1 | |
Uncertain significance (3) |
criteria provided, multiple submitters, no conflicts
|
Aug 21, 2023 | RCV000573570.12 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Jun 18, 2022 | RCV002288604.2 | |
Uncertain significance (1) |
criteria provided, single submitter
|
May 10, 2022 | RCV002477307.2 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Feb 5, 2024 | RCV003226204.3 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Jan 16, 2024 | RCV003905134.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Uncertain significance
(Jun 18, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Li-Fraumeni syndrome 1
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV002582639.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
|
|
Uncertain significance
(Jun 18, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV002582076.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
|
|
Uncertain significance
(Aug 21, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001359462.3
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces glycine with serine at codon 154 of the TP53 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces glycine with serine at codon 154 of the TP53 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Functional studies have shown the mutant protein to be partially functional in yeast transactivation assays (IARC database and PMID: 12826609, 20407015), functional in transcription activation assay in human cells (PMID: 33257846) and in human cell growth assay (PMID: 29979965). A different human cell growth assay was inconclusive regarding the variant impact on protein function (PMID: 30224644). This variant has been reported in three individuals affected with breast cancer (PMID: 28664506, 28861920, 30287823), in one individual affected each with renal cancer who met the Birch criteria for Li-Fraumeni syndrome testing (PMID: 31321604) and pediatric B-cell acute lymphoblastic leukemia (PMID: 29300620). This variant also has been detected in a breast cancer case-control meta-analysis in 4/60466 cases and 3/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID TP53_010102). This variant has been identified in 6/282632 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
|
|
Uncertain significance
(Oct 13, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV004562211.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
Comment:
The TP53 c.460G>A; p.Gly154Ser variant (rs137852789) is reported in the literature in individuals affected with breast and renal cancer (Bittar 2019, Yang 2017). This variant … (more)
The TP53 c.460G>A; p.Gly154Ser variant (rs137852789) is reported in the literature in individuals affected with breast and renal cancer (Bittar 2019, Yang 2017). This variant is also reported in ClinVar (Variation ID: 133284). This variant is found in the non-Finnish European population with an allele frequency of 0.005% (6/129022 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.638). Due to limited information, the clinical significance of this variant is uncertain at this time. References: Bittar CM et al. TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling. Fam Cancer. 2019 Oct;18(4):451-456. PMID: 31321604. Yang XR et al. Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia. Breast Cancer Res Treat. 2017 Oct;165(3):687-697. PMID: 28664506. (less)
|
|
Uncertain significance
(Feb 05, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV003922733.2
First in ClinVar: May 13, 2023 Last updated: Apr 15, 2024 |
Comment:
Variant summary: TP53 c.460G>A (p.Gly154Ser) results in a non-conservative amino acid change located in the DNA-binding domain (IPR011615) of the encoded protein sequence. Four of … (more)
Variant summary: TP53 c.460G>A (p.Gly154Ser) results in a non-conservative amino acid change located in the DNA-binding domain (IPR011615) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251252 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.460G>A has been reported in the literature in individuals affected with breast or renal cancer (e.g. Yang_2017, Bittar_2019). These reports do not provide unequivocal conclusions about association of the variant with Li-Fraumeni Syndrome. The variant has been reported to be partially-functional based on overall transactivation activity (TA) on several different promoters as measured in yeast assays (Kato_2003, Jordan_2010), with significantly elevated transactivation activities at higher protein expression levels (Jordan_2010). The following publications have been ascertained in the context of this evaluation (PMID: 20407015, 28664506, 31321604, 30224644,27463065). ClinVar contains an entry for this variant (Variation ID: 133284). Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
|
|
Uncertain significance
(Apr 01, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001134869.3
First in ClinVar: Jan 05, 2020 Last updated: Jan 01, 2022 |
|
|
Uncertain significance
(May 10, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Colorectal cancer Hepatocellular carcinoma Glioma susceptibility 1 Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Bone osteosarcoma Carcinoma of pancreas Choroid plexus papilloma Nasopharyngeal carcinoma Basal cell carcinoma, susceptibility to, 7 Bone marrow failure syndrome 5
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002789085.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
Uncertain significance
(Sep 19, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Li-Fraumeni syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000259695.10
First in ClinVar: Jan 31, 2016 Last updated: Nov 11, 2023 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 154 of the TP53 protein (p.Gly154Ser). … (more)
This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 154 of the TP53 protein (p.Gly154Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individuals with breast cancer, kidney cancer and acute lymphoblastic leukemia (PMID: 28664506, 29300620, 31321604; Invitae). ClinVar contains an entry for this variant (Variation ID: 133284). Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is expected to disrupt TP53 protein function. Experimental studies have shown that this missense change does not substantially affect TP53 function (PMID: 12826609, 20407015, 29979965). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
|
|
Uncertain significance
(Aug 16, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV002005650.3
First in ClinVar: Nov 06, 2021 Last updated: Aug 31, 2023 |
Comment:
Observed in individuals with breast cancer, renal cancer, or hyperdiploid acute lymphocytic leukemia (Yang et al., 2017; Qian et al., 2018; Momozawa et al., 2018; … (more)
Observed in individuals with breast cancer, renal cancer, or hyperdiploid acute lymphocytic leukemia (Yang et al., 2017; Qian et al., 2018; Momozawa et al., 2018; Bittar et al., 2019; Dorling et al., 2021); Published functional studies are inconclusive: partially functional or competent transactivation, and growth suppression abilities comparable to wildtype (Kato et al., 2003; Shiraishi et al., 2004; Jordan et al., 2010; Giacomelli et al., 2018; Kotler et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31321604, 28664506, 29979965, 28861920, 14559903, 20407015, 12826609, 30886117, 35008396, 30840781, 34234460, 33471991, 30287823, 15510160, 30224644, 29300620, 36479692, 37352403, 22768918) (less)
|
|
Uncertain significance
(Jan 16, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
TP53-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004721537.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The TP53 c.460G>A variant is predicted to result in the amino acid substitution p.Gly154Ser. This variant was reported in an individual with breast cancer (Yang … (more)
The TP53 c.460G>A variant is predicted to result in the amino acid substitution p.Gly154Ser. This variant was reported in an individual with breast cancer (Yang et al 2017. PubMed ID: 28664506) or an individual with renal cancer (Bittar CM et al 2019. PubMed ID: 31321604). This variant is reported in 0.0047% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Functional studies have been inconclusive regarding the impact of this missense change on TP53 function (Kato S et al 2003. PubMed ID: 12826609; Jordan JJ et al 2010. PubMed ID: 20407015; Kotler E et al 2018. PubMed ID: 29979965). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (less)
|
|
Uncertain Significance
(Nov 20, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Li-Fraumeni syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004823802.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Comment:
This missense variant replaces glycine with serine at codon 154 of the TP53 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces glycine with serine at codon 154 of the TP53 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Functional studies have shown the mutant protein to be partially functional in yeast transactivation assays (IARC database and PMID: 12826609, 20407015), functional in transcription activation assay in human cells (PMID: 33257846) and in human cell growth assay (PMID: 29979965). A different human cell growth assay was inconclusive regarding the variant impact on protein function (PMID: 30224644). This variant has been reported in three individuals affected with breast cancer (PMID: 28664506, 28861920, 30287823), in one individual affected each with renal cancer who met the Birch criteria for Li-Fraumeni syndrome testing (PMID: 31321604) and pediatric B-cell acute lymphoblastic leukemia (PMID: 29300620). This variant also has been detected in a breast cancer case-control meta-analysis in 4/60466 cases and 3/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID TP53_010102). This variant has been identified in 6/282632 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
Number of individuals with the variant: 4
|
|
Uncertain significance
(Jul 31, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000664404.6
First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024 |
Comment:
The p.G154S variant (also known as c.460G>A), located in coding exon 4 of the TP53 gene, results from a G to A substitution at nucleotide … (more)
The p.G154S variant (also known as c.460G>A), located in coding exon 4 of the TP53 gene, results from a G to A substitution at nucleotide position 460. The glycine at codon 154 is replaced by serine, an amino acid with similar properties. This alteration has been reported in a patient diagnosed with breast cancer at age 38 and in a patient diagnosed with renal cancer at age 40 (Yang XR et al. Breast Cancer Res.Treat. 2017 Oct;165(3):687-697; Bittar CM et al. Fam Cancer, 2019 10;18:451-456). This variant was also reported in 4/60,466 breast cancer cases and in 3/53,461 controls (Dorling et al. N Engl J Med. 2021 02;384:428-439). This variant is in the DNA binding domain of the TP53 protein and is reported to have partial loss of transactivation capacity and predicted to affect several p53 isoforms (Kato S et al. Proc Natl Acad Sci USA. 2003 Jul 8;100(14):8424-9). Studies conducted in human cell lines indicate this alteration remains proficient at growth suppression (Kotler E et al. Mol.Cell, 2018 Jul;71:178-190.e8; Giacomelli AO et al. Nat. Genet., 2018 Oct;50:1381-1387). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be inconclusive by in silico analyses. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: research
|
Malignant tumor of urinary bladder
Affected status: yes
Allele origin:
somatic
|
Laboratory of Urology, Hospital Clinic de Barcelona
Accession: SCV004040539.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
|
|
not provided
(-)
|
no classification provided
Method: not provided
|
not provided
Affected status: not provided
Allele origin:
somatic
|
Laboratory of Translational Genomics, National Cancer Institute
Accession: SCV000154269.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Pediatric sarcoma specimen
|
|
|
click to load more click to collapse |
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene. | Doffe F | Cell death and differentiation | 2021 | PMID: 33257846 |
TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling. | Bittar CM | Familial cancer | 2019 | PMID: 31321604 |
The mutational landscape of accelerated- and blast-phase myeloproliferative neoplasms impacts patient outcomes. | McNamara CJ | Blood advances | 2018 | PMID: 30327374 |
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. | Momozawa Y | Nature communications | 2018 | PMID: 30287823 |
Mutational processes shape the landscape of TP53 mutations in human cancer. | Giacomelli AO | Nature genetics | 2018 | PMID: 30224644 |
A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation. | Kotler E | Molecular cell | 2018 | PMID: 29979965 |
TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children. | Qian M | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2018 | PMID: 29300620 |
Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history. | de Andrade KC | Human mutation | 2017 | PMID: 28861920 |
Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia. | Yang XR | Breast cancer research and treatment | 2017 | PMID: 28664506 |
Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. | Döhner H | Blood | 2017 | PMID: 27895058 |
The impact of TP53 mutations and TP53 deletions on survival varies between AML, ALL, MDS and CLL: an analysis of 3307 cases. | Stengel A | Leukemia | 2017 | PMID: 27680515 |
TP53 and Decitabine in Acute Myeloid Leukemia and Myelodysplastic Syndromes. | Welch JS | The New England journal of medicine | 2016 | PMID: 27959731 |
TP53 mutations in newly diagnosed acute myeloid leukemia: Clinicomolecular characteristics, response to therapy, and outcomes. | Kadia TM | Cancer | 2016 | PMID: 27463065 |
Genomic Classification and Prognosis in Acute Myeloid Leukemia. | Papaemmanuil E | The New England journal of medicine | 2016 | PMID: 27276561 |
Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples. | Dallol A | Journal of translational medicine | 2016 | PMID: 27146902 |
Specific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival. | Mullany LK | Neoplasia (New York, N.Y.) | 2015 | PMID: 26585234 |
TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution. | Hou HA | Blood cancer journal | 2015 | PMID: 26230955 |
TP53 mutation characteristics in therapy-related myelodysplastic syndromes and acute myeloid leukemia is similar to de novo diseases. | Ok CY | Journal of hematology & oncology | 2015 | PMID: 25952993 |
Functional characterisation of p53 mutants identified in breast cancers with suboptimal responses to anthracyclines or mitomycin. | Berge EO | Biochimica et biophysica acta | 2013 | PMID: 23246812 |
A novel hierarchical prognostic model of AML solely based on molecular mutations. | Grossmann V | Blood | 2012 | PMID: 22915647 |
TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome. | Rücker FG | Blood | 2012 | PMID: 22186996 |
TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression. | Jädersten M | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2011 | PMID: 21519010 |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. | Monti P | Molecular cancer research : MCR | 2011 | PMID: 21343334 |
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. | Jordan JJ | Molecular cancer research : MCR | 2010 | PMID: 20407015 |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype. | Monti P | Clinical cancer research : an official journal of the American Association for Cancer Research | 2007 | PMID: 17606709 |
Functional analysis and molecular modeling show a preserved wild-type activity of p53(C238Y). | Ferrone M | Molecular cancer therapeutics | 2006 | PMID: 16818505 |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. | Kato S | Proceedings of the National Academy of Sciences of the United States of America | 2003 | PMID: 12826609 |
A peptide that binds and stabilizes p53 core domain: chaperone strategy for rescue of oncogenic mutants. | Friedler A | Proceedings of the National Academy of Sciences of the United States of America | 2002 | PMID: 11782540 |
click to load more click to collapse |
Text-mined citations for rs137852789 ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.