ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
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.725G>A (p.Cys242Tyr)
Variation ID: 12354 Accession: VCV000012354.21
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17p13.1 17: 7674238 (GRCh38) [ NCBI UCSC ] 17: 7577556 (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 Apr 4, 2013 May 1, 2024 Feb 16, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000546.6:c.725G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Cys242Tyr missense NM_001126112.3:c.725G>A NP_001119584.1:p.Cys242Tyr missense NM_001126113.3:c.725G>A NP_001119585.1:p.Cys242Tyr missense NM_001126114.3:c.725G>A NP_001119586.1:p.Cys242Tyr missense NM_001126115.2:c.329G>A NP_001119587.1:p.Cys110Tyr missense NM_001126116.2:c.329G>A NP_001119588.1:p.Cys110Tyr missense NM_001126117.2:c.329G>A NP_001119589.1:p.Cys110Tyr missense NM_001126118.2:c.608G>A NP_001119590.1:p.Cys203Tyr missense NM_001276695.3:c.608G>A NP_001263624.1:p.Cys203Tyr missense NM_001276696.3:c.608G>A NP_001263625.1:p.Cys203Tyr missense NM_001276697.3:c.248G>A NP_001263626.1:p.Cys83Tyr missense NM_001276698.3:c.248G>A NP_001263627.1:p.Cys83Tyr missense NM_001276699.3:c.248G>A NP_001263628.1:p.Cys83Tyr missense NM_001276760.3:c.608G>A NP_001263689.1:p.Cys203Tyr missense NM_001276761.3:c.608G>A NP_001263690.1:p.Cys203Tyr missense NC_000017.11:g.7674238C>T NC_000017.10:g.7577556C>T NG_017013.2:g.18313G>A LRG_321:g.18313G>A LRG_321t1:c.725G>A LRG_321p1:p.Cys242Tyr P04637:p.Cys242Tyr - Protein change
- C242Y, C110Y, C203Y, C83Y
- Other names
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- Canonical SPDI
- NC_000017.11:7674237:C:T
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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.
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
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 |
3366 | 3465 |
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) |
no assertion criteria provided
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Jan 1, 1995 | RCV000013148.26 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Feb 1, 2023 | RCV000129809.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 2, 2023 | RCV000231770.17 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000425602.4 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000419041.4 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000436295.4 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000419614.4 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000440992.4 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000424935.4 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000432119.4 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000436867.4 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000442015.4 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000426292.4 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000430302.4 | |
Likely pathogenic (1) |
no assertion criteria provided
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Dec 1, 2018 | RCV000785282.5 | |
Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Feb 16, 2024 | RCV002288484.6 | |
Pathogenic (1) |
criteria provided, single submitter
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May 4, 2022 | RCV002247332.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 13, 2023 | RCV003314552.3 | |
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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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Pathogenic
(Jun 18, 2022)
|
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: SCV002582470.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
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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: SCV002583130.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
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Pathogenic
(Feb 01, 2023)
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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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Color Diagnostics, LLC DBA Color Health
Accession: SCV004359987.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces cysteine with tyrosine at codon 242 of the TP53 protein. Computational prediction suggests that this variant may have deleterious impact on … (more)
This missense variant replaces cysteine with tyrosine at codon 242 of the TP53 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Experimental studies have shown that this variant disrupted function in yeast transactivation assays (PMID: 12826609), human cell proliferation assays (PMID: 29979965), and human cell growth suppression assays (PMID: 30224644). This variant has been reported in individuals affected with Li-Fraumeni syndrome (PMID: 1679237, 19930417, 32179180), individuals that met Chompret criteria (PMID: 8164043; IARC database), and individuals affected with breast cancer (PMID: 19147582, 29958926, 31168460, 32126783, 33471991). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Different variants occurring at the same codon, p.Cys242Trp and p.Cys242Phe, are well documented pathogenic mutations (Clinvar Variation ID: 376578, 376580), indicating that cysteine at this position is important for TP53 protein function. Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(May 04, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
germline
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Mendelics
Accession: SCV002519888.1
First in ClinVar: May 28, 2022 Last updated: May 28, 2022 |
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Pathogenic
(Jul 13, 2023)
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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: SCV004014206.1
First in ClinVar: Jul 22, 2023 Last updated: Jul 22, 2023 |
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; … (more)
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with personal histories consistent with Li-Fraumeni syndrome in published literature and tested at GeneDx (Metzger et al., 1991; McIntyre et al., 1994; Murakawa et al., 1998; Blanco et al., 2010; Mirabello et al., 2015); Published functional studies demonstrate a damaging effect: non-functional transactivation, impaired growth suppression activity, dominant-negative effect (Campomenosi et al., 2001; Kato et al., 2003; Monti et al., 2011; Kotler et al., 2018; Giacomelli et al., 2018); This variant is associated with the following publications: (PMID: 23531339, 20557307, 25529192, 22941189, 29979965, 17606709, 21349819, 9839505, 12826609, 1679237, 21348641, 19930417, 23200980, 23973117, 27267833, 25232094, 25695693, 22983585, 12112531, 27739435, 17962810, 21343334, 25847421, 22047961, 27121307, 15388804, 11429705, 21197471, 16622896, 11596036, 12957544, 25593300, 8164043, 20407015, 25896519, 9364015, 10089074, 30720243, 30840781, 31206626, 30224644, 15510160, 31105275) (less)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Li-Fraumeni syndrome 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004048073.1
First in ClinVar: Oct 28, 2023 Last updated: Oct 28, 2023 |
Comment:
The missense variant c.725G>A (p.Cys242Tyr) in TP53 gene has been reported in literature (Chang MT et.al.,2016). This pathogenic mutation is located in the functionally critical … (more)
The missense variant c.725G>A (p.Cys242Tyr) in TP53 gene has been reported in literature (Chang MT et.al.,2016). This pathogenic mutation is located in the functionally critical DNA binding domain, and it is one of four amino acid residues required for zinc binding and protein stabilization (Cho Y et al.). This variant has been reported to the ClinVar database as Pathogenic. The p.Cys242Tyr variant is reported with allele frequency of 0% in gnomAD exomes and novel in 1000 Genomes. The amino acid Cys at position 242 is changed to a Tyr changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Cys242Tyr in TP53 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Pathogenic. (less)
Clinical Features:
Breast carcinoma (present)
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Pathogenic
(Nov 02, 2023)
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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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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000285209.11
First in ClinVar: Jul 01, 2016 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 242 of the TP53 protein … (more)
This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 242 of the TP53 protein (p.Cys242Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Li-Fraumeni syndrome associated tumors (PMID: 1679237, 8164043, 9839505, 19930417, 25896519, 27276934; Invitae). ClinVar contains an entry for this variant (Variation ID: 12354). 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 with a positive predictive value of 97.5%. Experimental studies have shown that this missense change affects TP53 function (PMID: 2531845, 2554494, 8023157, 9364015, 11429705, 12726864, 12826609, 12917626, 20407015, 21343334). This variant disrupts the p.Cys242Arg amino acid residue in TP53. Other variant(s) that disrupt this residue have been observed in individuals with TP53-related conditions (PMID: 18511570, 20805372, 21059199, 25896519), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. (less)
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Likely pathogenic
(Feb 16, 2024)
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criteria provided, single submitter
Method: clinical testing
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Li-Fraumeni syndrome 1
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004931268.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29979965]. This variant is expected to disrupt protein structure [Myriad … (more)
This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29979965]. This variant is expected to disrupt protein structure [Myriad internal data]. (less)
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Pathogenic
(Feb 06, 2019)
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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: SCV000184623.9
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The p.C242Y (also known as c.725G>A) pathogenic mutation is located in coding exon 6 of the TP53 gene. This variant results from a G to … (more)
The p.C242Y (also known as c.725G>A) pathogenic mutation is located in coding exon 6 of the TP53 gene. This variant results from a G to A substitution at nucleotide position 725, and the cysteine at codon 242 is replaced by tyrosine, an amino acid with highly dissimilar properties. This pathogenic mutation is located in the functionally critical DNA binding domain, and it is one of four amino acid residues required for zinc binding and protein stabilization (Cho Y et al. Science. 1994 Jul; 265(5170):346-55). This variant is also reported to have loss of transactivation capacity, dominant negative effect and predicted to affect several p53 isoforms in yeast based assays (IARC TP53 database; Kato S et al. Proc. Natl. Acad. Sci. USA. 2003 Jul;100:8424-9; Monti P et al. Mol. Cancer Res. 2011 Mar;9:271-9; Rainwater R et al. Mol. Cell. Biol. 1995 Jul;15(7):3892-903). This p.C242Y mutation has been detected in multiple individuals/families satisfying criteria for Li-Fraumeni syndrome (Blanco A et al. Clin Genet. 2010 Feb;77(2):193-6; Metzger AK et al. Proc Natl Acad Sci U S A. 1991 Sep 1;88(17):7825-9; McIntyre JF et al. J Clin Oncol. 1994 May;12(5):925-30; Ambry internal data). In addition, another missense alteration at codon 242, p.C242R, has been reported as pathogenic in a woman with the following clinical history: phyllodes breast tumor at age 22, liposarcoma at age 26, contralateral breat cancer at age 29 and ipsilateral recurrence within the radiation field at age 33, and chest wall angiosarcoma at age 35 (Heymann S et al. Radiat Oncol. 2010 Nov 8;5:104). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (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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None
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000507792.1
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
|
Database of Curated Mutations (DoCM)
Accession: SCV000507793.1
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: SCV000507791.1
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 lung carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000507796.1
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
|
Database of Curated Mutations (DoCM)
Accession: SCV000507799.1
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
|
Database of Curated Mutations (DoCM)
Accession: SCV000507797.1
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: SCV000507794.1
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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Breast neoplasm
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000507795.1
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: SCV000507798.1
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
|
Database of Curated Mutations (DoCM)
Accession: SCV000507800.1
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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Carcinoma of esophagus
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000507801.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Pathogenic
(Jan 01, 1995)
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no assertion criteria provided
Method: literature only
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LI-FRAUMENI-LIKE SYNDROME
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000033395.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Comment on evidence:
In a patient with Li-Fraumeni syndrome-1 (151623) presenting as a malignant ependymoma of the posterior fossa, Metzger et al. (1991) identified a germline cys242-to-tyr (C242Y) … (more)
In a patient with Li-Fraumeni syndrome-1 (151623) presenting as a malignant ependymoma of the posterior fossa, Metzger et al. (1991) identified a germline cys242-to-tyr (C242Y) substitution in the TP53 gene. Tumor tissue from the patient carried the same mutation. Family history revealed that many members had died of various cancers, including osteosarcoma and other brain tumors. The mutation was in exon 7 in an area highly conserved across species and a region involved in several other mutations in neoplasms, including in other families with Li-Fraumeni syndrome-1. Ependymoma had not previously been observed as a feature of Li-Fraumeni syndrome. Eeles (1995) noted that this family had tumors characteristic of Li-Fraumeni-like syndrome, but only among relatives with a third-degree relationship. (less)
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Likely pathogenic
(Dec 01, 2018)
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no assertion criteria provided
Method: research
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Ovarian neoplasm
Affected status: yes
Allele origin:
somatic
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German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
Accession: SCV000923850.1
First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019 |
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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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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 |
High Prevalence of Somatic Oncogenic Driver Alterations in Patients With NSCLC and Li-Fraumeni Syndrome. | Mezquita L | Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer | 2020 | PMID: 32179180 |
Gene Panel Testing in Hereditary Breast Cancer. | Rostami P | Archives of Iranian medicine | 2020 | PMID: 32126783 |
Characterization of frequently mutated cancer genes in Chinese breast tumors: a comparison of Chinese and TCGA cohorts. | Zhang G | Annals of translational medicine | 2019 | PMID: 31168460 |
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 |
Clinicopathologic characterization of breast carcinomas in patients with non-BRCA germline mutations: results from a single institution's high-risk population. | Meiss AE | Human pathology | 2018 | PMID: 29958926 |
The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program. | Bunnell AE | Journal of genetic counseling | 2017 | PMID: 27276934 |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | Chang MT | Nature biotechnology | 2016 | PMID: 26619011 |
Germline TP53 variants and susceptibility to osteosarcoma. | Mirabello L | Journal of the National Cancer Institute | 2015 | PMID: 25896519 |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. | Monti P | Molecular cancer research : MCR | 2011 | PMID: 21343334 |
Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. | Heymann S | Radiation oncology (London, England) | 2010 | PMID: 21059199 |
A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations. | Wilson JR | Journal of medical genetics | 2010 | PMID: 20805372 |
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. | Jordan JJ | Molecular cancer research : MCR | 2010 | PMID: 20407015 |
Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN. | Blanco A | Clinical genetics | 2010 | PMID: 19930417 |
High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors. | Manié E | Cancer research | 2009 | PMID: 19147582 |
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. | Bougeard G | Journal of medical genetics | 2008 | PMID: 18511570 |
Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay. | Monti P | Oncogene | 2003 | PMID: 12917626 |
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 polymorphism influences response in cancer chemotherapy via modulation of p73-dependent apoptosis. | Bergamaschi D | Cancer cell | 2003 | PMID: 12726864 |
p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements. | Campomenosi P | Oncogene | 2001 | PMID: 11429705 |
Astrocytoma and B-cell lymphoma development in a man with a p53 germline mutation. | Murakawa Y | Japanese journal of clinical oncology | 1998 | PMID: 9839505 |
Simple identification of dominant p53 mutants by a yeast functional assay. | Inga A | Carcinogenesis | 1997 | PMID: 9364015 |
Germline mutations in the TP53 gene. | Eeles RA | Cancer surveys | 1995 | PMID: 8718514 |
Role of cysteine residues in regulation of p53 function. | Rainwater R | Molecular and cellular biology | 1995 | PMID: 7791795 |
Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma. | McIntyre JF | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 1994 | PMID: 8164043 |
Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. | Cho Y | Science (New York, N.Y.) | 1994 | PMID: 8023157 |
Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma. | Metzger AK | Proceedings of the National Academy of Sciences of the United States of America | 1991 | PMID: 1679237 |
p53: a frequent target for genetic abnormalities in lung cancer. | Takahashi T | Science (New York, N.Y.) | 1989 | PMID: 2554494 |
Mutations in the p53 gene occur in diverse human tumour types. | Nigro JM | Nature | 1989 | PMID: 2531845 |
http://docm.genome.wustl.edu/variants/ENST00000269305:c.725G>A | - | - | - | - |
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Text-mined citations for rs121912655 ...
HelpRecord last updated Sep 29, 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.