ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.578A>G (p.His193Arg)
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.578A>G (p.His193Arg)
Variation ID: 184979 Accession: VCV000184979.24
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17p13.1 17: 7674953 (GRCh38) [ NCBI UCSC ] 17: 7578271 (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 Oct 9, 2016 May 1, 2024 Feb 15, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000546.6:c.578A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.His193Arg missense NM_001126112.3:c.578A>G NP_001119584.1:p.His193Arg missense NM_001126113.3:c.578A>G NP_001119585.1:p.His193Arg missense NM_001126114.3:c.578A>G NP_001119586.1:p.His193Arg missense NM_001126115.2:c.182A>G NP_001119587.1:p.His61Arg missense NM_001126116.2:c.182A>G NP_001119588.1:p.His61Arg missense NM_001126117.2:c.182A>G NP_001119589.1:p.His61Arg missense NM_001126118.2:c.461A>G NP_001119590.1:p.His154Arg missense NM_001276695.3:c.461A>G NP_001263624.1:p.His154Arg missense NM_001276696.3:c.461A>G NP_001263625.1:p.His154Arg missense NM_001276697.3:c.101A>G NP_001263626.1:p.His34Arg missense NM_001276698.3:c.101A>G NP_001263627.1:p.His34Arg missense NM_001276699.3:c.101A>G NP_001263628.1:p.His34Arg missense NM_001276760.3:c.461A>G NP_001263689.1:p.His154Arg missense NM_001276761.3:c.461A>G NP_001263690.1:p.His154Arg missense NC_000017.11:g.7674953T>C NC_000017.10:g.7578271T>C NG_017013.2:g.17598A>G LRG_321:g.17598A>G LRG_321t1:c.578A>G LRG_321p1:p.His193Arg P04637:p.His193Arg - Protein change
- H154R, H193R, H61R, H34R
- Other names
- -
- Canonical SPDI
- NC_000017.11:7674952:T:C
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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/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Jun 18, 2022 | RCV000164329.7 | |
Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Jan 11, 2023 | RCV000255425.7 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000418086.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000418288.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000428340.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000423280.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000424475.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000425611.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000434391.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000427767.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000417979.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000433342.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000423052.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000439433.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000440903.3 | |
Pathogenic (2) |
criteria provided, single submitter
|
- | RCV000429618.4 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000445029.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000434549.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000435651.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000435870.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000439827.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000445148.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 28, 2023 | RCV000460847.13 | |
Likely pathogenic (1) |
no assertion criteria provided
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Dec 1, 2018 | RCV000785346.4 | |
Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Feb 15, 2024 | RCV002288732.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 9, 2022 | RCV003474857.1 | |
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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
(-)
|
criteria provided, single submitter
Method: case-control
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Squamous cell carcinoma of the head and neck
Affected status: yes
Allele origin:
somatic
|
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo
Accession: SCV001450485.1
First in ClinVar: Dec 12, 2020 Last updated: Dec 12, 2020 |
Age: 40-49 years
Sex: male
Geographic origin: Sri Lanka
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Likely 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
|
Genome-Nilou Lab
Accession: SCV002582375.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
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Likely pathogenic
(Jun 18, 2022)
|
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: SCV002583036.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
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Pathogenic
(Jan 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000322118.9
First in ClinVar: Oct 09, 2016 Last updated: Jan 21, 2023 |
Comment:
Published functional studies demonstrate a damaging effect: defective DNA binding, transactivation, and growth suppression ability (Kato et al., 2003; Malcikova et al., 2010; Monti et … (more)
Published functional studies demonstrate a damaging effect: defective DNA binding, transactivation, and growth suppression ability (Kato et al., 2003; Malcikova et al., 2010; Monti et al., 2011; Kotler et al., 2018); 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; This variant is associated with the following publications: (PMID: 17606709, 9627118, 15280671, 7887414, 19367569, 20128691, 21343334, 26425688, 9546439, 16322298, 16861262, 11238194, 21190917, 1458490, 30816478, 25945745, 29752822, 28724667, 30720243, 30840781, 31105275, 32817165, 15161705, 22265402, 30076369, 15510160, 29979965, 12826609, 28356770) (less)
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Pathogenic
(Aug 09, 2022)
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criteria provided, single submitter
Method: clinical testing
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Adrenocortical carcinoma, hereditary
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004204277.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Aug 13, 2021)
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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
|
Ambry Genetics
Accession: SCV000214960.7
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
The p.H193R pathogenic mutation (also known as c.578A>G), located in coding exon 5 of the TP53 gene, results from an A to G substitution at … (more)
The p.H193R pathogenic mutation (also known as c.578A>G), located in coding exon 5 of the TP53 gene, results from an A to G substitution at nucleotide position 578. The histidine at codon 193 is replaced by arginine, an amino acid with highly similar properties. This variant has previously been reported in an individual from a family meeting classic Li Fraumeni syndrome criteria, in an individual meeting Chompret criteria, and in several unrelated individuals with early onset Li-Fraumeni spectrum tumors (Frebourg T et al. Am. J. Hum. Genet. 1995 Mar; 56(3):608-15; Nandikolla AG et al. Breast Cancer (Dove Med Press), 2017 Mar;9:207-215; Fortes FP et al. Braz. J. Med. Biol. Res. 2015 Jul;48:610-5; Bouaoun L et al. IARC TP53 database [version R18, April 2016]. Hum. Mutat. 2016 Sep;37:865-76). This alteration has also been reported in multiple breast cancer cohorts (Sun J et al. Clin Cancer Res, 2017 Oct;23:6113-6119; Li JY et al. Int J Cancer, 2019 01;144:281-289; 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 non-functional transactivation in yeast based assays, a dominant negative effect, and reduced DNA binding activity (Kato S et al. Proc. Natl. Acad. Sci. USA. 2003 Jul;100:8424-9; Monti P et al. Mol Cancer Res. 2011 Mar;9(3):271-9; Dearth LR et al. Carcinogenesis. 2007 Feb;28:289-98). Studies conducted in human cell lines indicate this alteration is deficient at growth suppression and has a dominant negative effect (Kotler E et al. Mol.Cell. 2018 Jul;71:178-190.e8; Giacomelli AO et al. Nat. Genet. 2018 Oct;50:1381-1387). This alteration has been observed numerous times as a somatic mutation in the cancerhotspots.org database (Chang MT et al. Cancer Discov. 2018 02;8:174-183). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
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Likely pathogenic
(Sep 01, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001469323.2
First in ClinVar: Jan 26, 2021 Last updated: Jan 01, 2022 |
Comment:
The variant has been reported in individuals with Li-Fraumeni syndrome related cancers in the published literature (PMID: 29752822 (2018), 28724667 (2017), 25945745 (2015), 22265402 (2012), … (more)
The variant has been reported in individuals with Li-Fraumeni syndrome related cancers in the published literature (PMID: 29752822 (2018), 28724667 (2017), 25945745 (2015), 22265402 (2012), 17606709 (2007), 7887414 (1995)). Functional data indicates that this variant acts in a dominant negative manner and disrupts the transcriptional transactivation and DNA binding activity of the TP53 protein (PMID: 21343334 (2011), 20128691 (2010), 16861262 (2007), 12826609 (2003), 9627118 (1998)). Based on the available information, we predict that the variant is likely pathogenic. (less)
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Pathogenic
(Jul 28, 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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Invitae
Accession: SCV000545345.10
First in ClinVar: Apr 17, 2017 Last updated: Feb 28, 2024 |
Comment:
Experimental studies have shown that this missense change affects TP53 function (PMID: 9627118, 12826609, 16861262, 20128691, 21343334). This sequence change replaces histidine, which is basic … (more)
Experimental studies have shown that this missense change affects TP53 function (PMID: 9627118, 12826609, 16861262, 20128691, 21343334). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 193 of the TP53 protein (p.His193Arg). 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: 7887414, 22265402, 25945745, 28724667; Invitae). ClinVar contains an entry for this variant (Variation ID: 184979). 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. For these reasons, this variant has been classified as Pathogenic. (less)
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Likely pathogenic
(Feb 15, 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: SCV004930956.1
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: 15221755, 20128691, 29979965]. This variant is expected to disrupt protein … (more)
This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 15221755, 20128691, 29979965]. This variant is expected to disrupt protein structure [Myriad internal data]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 7887414, 28356770]. (less)
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Likely pathogenic
(May 31, 2016)
|
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: SCV000508466.1
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
|
Transitional cell carcinoma of the bladder
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508467.1
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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Papillary renal cell carcinoma, sporadic
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508471.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Small cell lung carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508473.1
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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Carcinoma of esophagus
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508472.1
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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Neoplasm of brain
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508468.1
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: SCV000508469.1
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
|
None
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508470.1
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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Acute myeloid leukemia
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508474.1
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
|
None
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508475.1
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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Ovarian serous cystadenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508479.1
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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Uterine carcinosarcoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508481.1
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: SCV000508480.1
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
|
Brainstem glioma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508476.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Malignant neoplasm of body of uterus
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508477.1
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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Prostate adenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508478.1
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
|
Hepatocellular carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508482.1
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
|
B-cell chronic lymphocytic leukemia
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508483.1
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
|
Pancreatic adenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508484.1
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
|
Neoplasm of the large intestine
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508485.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(Dec 01, 2018)
|
no assertion criteria provided
Method: research
|
Neoplasm of ovary
Affected status: yes
Allele origin:
somatic
|
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
Accession: SCV000923914.1
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 |
---|---|---|---|---|
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 |
Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer. | Manoharan V | Molecular medicine reports | 2019 | PMID: 30816478 |
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer. | Li JY | International journal of cancer | 2019 | PMID: 29752822 |
Mutational processes shape the landscape of TP53 mutations in human cancer. | Giacomelli AO | Nature genetics | 2018 | PMID: 30224644 |
Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts. | Haque MM | Scientific reports | 2018 | PMID: 30076369 |
A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation. | Kotler E | Molecular cell | 2018 | PMID: 29979965 |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. | Sun J | Clinical cancer research : an official journal of the American Association for Cancer Research | 2017 | PMID: 28724667 |
Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature. | Nandikolla AG | Breast cancer (Dove Medical Press) | 2017 | PMID: 28356770 |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | Chang MT | Nature biotechnology | 2016 | PMID: 26619011 |
DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations. | Fortes FP | Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas | 2015 | PMID: 25945745 |
Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. | Rausch T | Cell | 2012 | PMID: 22265402 |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. | Monti P | Molecular cancer research : MCR | 2011 | PMID: 21343334 |
Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. | Malcikova J | Biological chemistry | 2010 | PMID: 20128691 |
Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements. | Kouidou S | Molecular carcinogenesis | 2009 | PMID: 19367569 |
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 |
Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers. | Dearth LR | Carcinogenesis | 2007 | PMID: 16861262 |
Functional protein microarrays for parallel characterisation of p53 mutants. | Boutell JM | Proteomics | 2004 | PMID: 15221755 |
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 |
Human tumor-derived p53 proteins exhibit binding site selectivity and temperature sensitivity for transactivation in a yeast-based assay. | Di Como CJ | Oncogene | 1998 | PMID: 9627118 |
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. | Frebourg T | American journal of human genetics | 1995 | PMID: 7887414 |
http://docm.genome.wustl.edu/variants/ENST00000269305:c.578A>G | - | - | - | - |
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Text-mined citations for rs786201838 ...
HelpRecord last updated May 12, 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.