ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.842A>T (p.Asp281Val)
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
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NM_000546.6(TP53):c.842A>T (p.Asp281Val)
Variation ID: 182968 Accession: VCV000182968.14
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17p13.1 17: 7673778 (GRCh38) [ NCBI UCSC ] 17: 7577096 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 Feb 24, 2015 May 1, 2024 Dec 15, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000546.6:c.842A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Asp281Val missense NM_001126112.3:c.842A>T NP_001119584.1:p.Asp281Val missense NM_001126113.3:c.842A>T NP_001119585.1:p.Asp281Val missense NM_001126114.3:c.842A>T NP_001119586.1:p.Asp281Val missense NM_001126115.2:c.446A>T NP_001119587.1:p.Asp149Val missense NM_001126116.2:c.446A>T NP_001119588.1:p.Asp149Val missense NM_001126117.2:c.446A>T NP_001119589.1:p.Asp149Val missense NM_001126118.2:c.725A>T NP_001119590.1:p.Asp242Val missense NM_001276695.3:c.725A>T NP_001263624.1:p.Asp242Val missense NM_001276696.3:c.725A>T NP_001263625.1:p.Asp242Val missense NM_001276697.3:c.365A>T NP_001263626.1:p.Asp122Val missense NM_001276698.3:c.365A>T NP_001263627.1:p.Asp122Val missense NM_001276699.3:c.365A>T NP_001263628.1:p.Asp122Val missense NM_001276760.3:c.725A>T NP_001263689.1:p.Asp242Val missense NM_001276761.3:c.725A>T NP_001263690.1:p.Asp242Val missense NC_000017.11:g.7673778T>A NC_000017.10:g.7577096T>A NG_017013.2:g.18773A>T LRG_321:g.18773A>T LRG_321t1:c.842A>T LRG_321p1:p.Asp281Val P04637:p.Asp281Val - Protein change
- D149V, D242V, D281V, D122V
- Other names
- p.D281V:GAC>GTC
- Canonical SPDI
- NC_000017.11:7673777:T:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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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 | ||
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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. |
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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. |
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Pathogenic (1) |
criteria provided, single submitter
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Jun 11, 2014 | RCV000161072.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000426125.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000417569.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000432892.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000423894.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000440916.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000442104.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000438736.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000443096.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000423186.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000425401.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000431328.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000433464.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000441595.3 | |
Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jun 18, 2022 | RCV000215048.6 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jun 18, 2022 | RCV002288706.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000418100.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000428503.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000434194.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000435682.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000435739.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 15, 2022 | RCV000799325.8 | |
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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. |
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Likely pathogenic
(Jun 18, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV002582348.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
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Likely pathogenic
(Jun 18, 2022)
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criteria provided, single submitter
Method: clinical testing
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Li-Fraumeni syndrome 1
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV002583008.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
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Likely pathogenic
(Jan 29, 2015)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000273624.7
First in ClinVar: May 29, 2016 Last updated: May 01, 2024 |
Comment:
The p.D281V variant (also known as c.842A>T), located in coding exon 7 of the TP53 gene, results from an A to T substitution at nucleotide … (more)
The p.D281V variant (also known as c.842A>T), located in coding exon 7 of the TP53 gene, results from an A to T substitution at nucleotide position 842. The aspartic acid at codon 281 is replaced by valine, an amino acid with highly dissimilar properties. This variant was first described in an 18 year old male with osteosarcoma (Chompret A, Br. J. Cancer 2000 Jun; 82(12):1932-7). Parental testing in this family failed to detect the p.D281V mutation, indicating that p.D281V likely occurred as a de novo event in the affected individual. In addition, other alterations impacting codon 281 have been reported as pathogenic (Krutilkova V et al. Eur. J. Cancer 2005; 41:1597-603; Salmon A et al. Clin Oncol (R Coll Radiol). 2007 Sep;12(7):490-3; Petitjean A et al. IARC TP53 database [version R16, November 2012]. Hum Mutat. 2007 Jun;28(6):622-9). Functional studies in yeast have demonstrated a compete loss of transactivation capacity and a strong dominant negative effect for this alteration (Kato S et al. Proc Natl Acad Sci USA. 2003 Jul 8;100(14):8424-9; Flaman JM, Oncogene 1998 Mar; 16(10):1369-72; Monti P, Mol. Cancer Res. 2011 Mar; 9(3):271-9.). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
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Pathogenic
(Jun 11, 2014)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000211806.11
First in ClinVar: Feb 24, 2015 Last updated: Feb 24, 2015 |
Comment:
A pathogenic missense pathogenic variant displaying apparent mosaicism was detected, meaning the variant was detected in some, but not all, cells. This is a missense … (more)
A pathogenic missense pathogenic variant displaying apparent mosaicism was detected, meaning the variant was detected in some, but not all, cells. This is a missense pathogenic variant, denoted TP53 c.842A>T at the cDNA level, p.Asp281Val (D281V) at the protein level, and results in the change of an Aspartic Acid to a Valine (GAC>GTC). This variant was observed in a patient with childhood osteosarcoma who had a family history of early-onset breast cancer (Chompret 2000). Three separate yeast based functional assays concluded that TP53 Asp281Val results in a transactivation-defective mutant phenotype while two additional functional assays, also yeast based, concluded that this mutation has a dominant negative effect and is unable to induce apoptosis (Monti 2007, Monti 2011, Pekova 2011). TP53 Asp281Val was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Aspartic Acid and Valine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. TP53 Asp281Val occurs at a position that is highly conserved across species and is located within the DNA binding region and the regions of interaction with HIPK1, ZNF385A, FBXO42 and E4F1. In addition, In silico analyses predict that this variant is probably damaging to protein structure and function. Based on the current evidence, we consider this variant to be pathogenic. This mutation appears to be mosaic, as the mutant allele was present but underrepresented in comparison to the normal allele. This result was confirmed using alternate, non-overlapping primers, making it unlikely that this result is due to preferential amplification of the normal allele. Therefore, this mutation is interpreted to be present in some, but not all, cells in this peripheral blood specimen. Neither Sanger nor Next Generation sequencing is a quantitative test; thus, it is not possible to determine more precisely the level of mosaicism in this specimen. Moreover, the level of mosaicism may be different in other tissues. As somatic mosaicism generally results from a post-zygotic event, parents and siblings are not likely at risk to carry this mosaic mutation. Germline mosaicism and transmission to the offspring of this patient, however, cannot be excluded. The following lifetime risks apply to individuals with germline TP53 mutations, and might be overestimates for individuals who are mosaic. A pathogenic variant in this gene is indicative of Li-Fraumeni syndrome (LFS), an autosomal dominant condition associated with a high risk for a broad range of childhood- and adult-onset cancers. The following core cancer types account for 70%-77% of LFS-associated tumors (in order of frequency): breast cancer, soft tissue sarcoma, brain tumors, osteosarcoma, and adrenocortical carcinoma (Gonzalez 2009, Olivier 2003, Ruijs 2010). Other types of cancer that have been reported to be associated with LFS include ovarian, gastrointestinal, pancreatic, genitourinary, skin, thyroid and lung cancers as well as leukemia, lymphoma, and neuroblastomas. Age-related and sex-specific cancer risks have been reported. According to one study, the overall risks for males with LFS to develop cancer by ages 16, 45, and 85 are estimated to be 19%, 41%, and 73%, respectively, whereas the risks for females are estimated to be 12%, 84%, and 100%, respectively (Chompret 2000). The higher penetrance in females is due to the high incidence of breast cancer, accounting for 80% of the cancers in the age group of 16 to 45 years (Chompret 2000). The majority of LFS-associated breast cancers are HER2/neu positive ductal carcinomas (Melhem-Bertrandt 2012). The most common types of sarcomas in LFS are rhabdomyosarcomas before age 5 and osteosarcomas at any age (Ognjanovic 2012). LFS is associated with many types of brain tumors including astrocytomas, glioblastomas, medulloblastomas and choroid plexus carcinomas, and they can occur in childhood or adulthood (Olivier 2003). Individuals with LFS who have been diagnosed with cancer have up to a 57% risk of a second primary cancer within 30 years of the first diagnosis and up to a 38% risk of a third primary diagnosis (Hisada 1998). Several studies have demonstrated that subsequent tumors often develop in the radiation field of the previously treated cancer (Chompret 2000, Hisada 1998). Approximately 24% of LFS cases result from a de novo, rather than inherited, variant in the TP53 gene (Chompret 2000). (less)
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Pathogenic
(Dec 15, 2022)
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criteria provided, single submitter
Method: clinical testing
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Li-Fraumeni syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000938982.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asp281 amino acid residue in TP53. Other variant(s) that disrupt this … (more)
For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asp281 amino acid residue in TP53. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15925506, 17390010, 17572079, 21305319, 23894400, 25293557). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects TP53 function (PMID: 12826609). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 12826609, 29979965, 30224644) indicates that this missense variant is expected to disrupt TP53 function. ClinVar contains an entry for this variant (Variation ID: 182968). This missense change has been observed in individual(s) with osteosarcoma (PMID: 10864200). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 281 of the TP53 protein (p.Asp281Val). (less)
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Breast neoplasm
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000507924.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Uterine carcinosarcoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000507925.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Squamous cell carcinoma of the skin
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000507926.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Gastric adenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000507927.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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B-cell chronic lymphocytic leukemia
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000507928.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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None
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000507929.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Glioblastoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000507931.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Neuroblastoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000507930.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Malignant melanoma of skin
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000507935.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Renal cell carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000507932.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Malignant neoplasm of body of uterus
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000507933.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Ovarian serous cystadenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000507934.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Pancreatic adenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000507937.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Hepatocellular carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000507936.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
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Multiple myeloma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000507938.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Squamous cell lung carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000507939.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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None
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000507941.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Transitional cell carcinoma of the bladder
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000507940.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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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 |
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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 |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | Chang MT | Nature biotechnology | 2016 | PMID: 26619011 |
Germline TP53 mutations is common in patients with two early-onset primary malignancies. | Chak BP | Clinical genetics | 2015 | PMID: 25293557 |
High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. | Mitchell G | PloS one | 2013 | PMID: 23894400 |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. | Monti P | Molecular cancer research : MCR | 2011 | PMID: 21343334 |
Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome. | Wu CC | Human genetics | 2011 | PMID: 21305319 |
Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation. | Salmon A | Clinical oncology (Royal College of Radiologists (Great Britain)) | 2007 | PMID: 17572079 |
Oncogenic mutation of the p53 gene derived from head and neck cancer prevents cells from undergoing apoptosis after DNA damage. | Kawamata H | International journal of oncology | 2007 | PMID: 17390010 |
Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. | Krutilkova V | European journal of cancer (Oxford, England : 1990) | 2005 | PMID: 15925506 |
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 |
P53 germline mutations in childhood cancers and cancer risk for carrier individuals. | Chompret A | British journal of cancer | 2000 | PMID: 10864200 |
Identification of human p53 mutations with differential effects on the bax and p21 promoters using functional assays in yeast. | Flaman JM | Oncogene | 1998 | PMID: 9546439 |
http://docm.genome.wustl.edu/variants/ENST00000269305:c.842A>T | - | - | - | - |
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Text-mined citations for rs587781525 ...
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.