ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.869G>A (p.Arg290His)
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.869G>A (p.Arg290His)
Variation ID: 127825 Accession: VCV000127825.51
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17p13.1 17: 7673751 (GRCh38) [ NCBI UCSC ] 17: 7577069 (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 Jan 31, 2016 Apr 15, 2024 Sep 16, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000546.6:c.869G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Arg290His missense NM_000546.5(TP53):c.869G>A NM_001126112.3:c.869G>A NP_001119584.1:p.Arg290His missense NM_001126113.3:c.869G>A NP_001119585.1:p.Arg290His missense NM_001126114.3:c.869G>A NP_001119586.1:p.Arg290His missense NM_001126115.2:c.473G>A NP_001119587.1:p.Arg158His missense NM_001126116.2:c.473G>A NP_001119588.1:p.Arg158His missense NM_001126117.2:c.473G>A NP_001119589.1:p.Arg158His missense NM_001126118.2:c.752G>A NP_001119590.1:p.Arg251His missense NM_001276695.3:c.752G>A NP_001263624.1:p.Arg251His missense NM_001276696.3:c.752G>A NP_001263625.1:p.Arg251His missense NM_001276697.3:c.392G>A NP_001263626.1:p.Arg131His missense NM_001276698.3:c.392G>A NP_001263627.1:p.Arg131His missense NM_001276699.3:c.392G>A NP_001263628.1:p.Arg131His missense NM_001276760.3:c.752G>A NP_001263689.1:p.Arg251His missense NM_001276761.3:c.752G>A NP_001263690.1:p.Arg251His missense NC_000017.11:g.7673751C>T NC_000017.10:g.7577069C>T NG_017013.2:g.18800G>A LRG_321:g.18800G>A LRG_321t1:c.869G>A LRG_321p1:p.Arg290His P04637:p.Arg290His - Protein change
- R158H, R251H, R290H, R131H
- Other names
- p.R290H:CGC>CAC
- Canonical SPDI
- NC_000017.11:7673750: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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0.00020 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00016
The Genome Aggregation Database (gnomAD) 0.00014
1000 Genomes Project 0.00020
1000 Genomes Project 30x 0.00031
Trans-Omics for Precision Medicine (TOPMed) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00016
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
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 |
3211 | 3306 |
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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Benign/Likely benign (4) |
criteria provided, multiple submitters, no conflicts
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Apr 23, 2021 | RCV000115740.23 | |
Benign (5) |
reviewed by expert panel
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Sep 16, 2019 | RCV000148914.33 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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Aug 15, 2023 | RCV000213061.21 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
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Jul 1, 2020 | RCV000620742.16 | |
Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
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Aug 1, 2023 | RCV000760102.23 | |
Uncertain significance (1) |
no assertion criteria provided
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- | RCV001357075.9 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jul 18, 2019 | RCV001798340.10 | |
Likely benign (1) |
criteria provided, single submitter
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Nov 12, 2021 | RCV003935102.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Benign
(Sep 16, 2019)
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reviewed by expert panel
Method: curation
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Li-Fraumeni syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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ClinGen TP53 Variant Curation Expert Panel, ClinGen
Accession: SCV001142524.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
Comment:
This variant has a minor allele frequency of 0.0003583 (0.03%, 9/25,120 alleles) in the European Finnish subpopulation of the gnomAD cohort (BS1). Transactivation assays show … (more)
This variant has a minor allele frequency of 0.0003583 (0.03%, 9/25,120 alleles) in the European Finnish subpopulation of the gnomAD cohort (BS1). Transactivation assays show super transactivation function according to Kato, et al. and there is no evidence of a dominant negative effect or loss of function according to Giacomelli, et al. (BS3; PMID: 12826609, 30224644). Additionally, this variant has a BayesDel score < 0.16 and Align GVGD (Zebrafish) is Class C0 or Class C15 (BP4). Finally, this variant has been observed in at least 7 60+ year old females without a cancer diagnosis (BS2_Supporting; FLOSSIES database - https://whi.color.com). In summary, TP53 c.869G>A; p.Arg290His meets criteria to be classified as benign for Li-Fraumeni syndrome. ACMG/AMP criteria applied, as specified by the TP53 Variant Curation Expert Panel: BS1, BS3, BP4, BS2_Supporting. (less)
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Uncertain significance
(Jun 01, 2014)
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criteria provided, single submitter
Method: research
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Li-Fraumeni syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190660.2 First in ClinVar: Dec 06, 2014 Last updated: Jan 31, 2016 |
Comment:
Low GERP score may suggest that this variant may belong in a lower pathogenicity class
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Likely benign
(Mar 28, 2018)
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criteria provided, single submitter
Method: research
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Li-Fraumeni syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV000886455.1
First in ClinVar: Feb 23, 2019 Last updated: Feb 23, 2019 |
Comment:
The TP53 variant designated as NM_000546.5:c.896G>A (p.R290H) is classified as likely benign in the context of Li-Fraumeni syndrome. Cosegregation analysis of one observed family was … (more)
The TP53 variant designated as NM_000546.5:c.896G>A (p.R290H) is classified as likely benign in the context of Li-Fraumeni syndrome. Cosegregation analysis of one observed family was performed using analyze.myvariant.org (Rañola et al, 2018, PMID:28965303) and gives a likelihood ratio of less than 0.005 to 1 (Thompson et al., 2013, PMID:12900794) in the context of Li-Fraumeni syndrome. This indicates that the TP53 variant is very unlikely to increase the risks of cancer to the extent reported in Li-Fraumeni syndrome. Computational programs predict that this variant is likely to be tolerated. Bayesian analysis integrating all of this data (Tavtigian et al, 2018, PMID:29300386) gives less than 1% probability of pathogenicity, which is consistent with a classification of likely benign in the context of Li-Fraumeni syndrome. Additionaly, the familial germline TP53 variant (NM_000546.5:c.869G>A, p.R290H) was detected in breast tumor tissue without evidence of loss of heterozygosity. No second somatic mutation was identified in TP53. The absence of loss of heterozygosity or second TP53 mutation in the tumor provides some evidence that the TP53 variant is more likely to be benign. We cannot rule out the possibility that this variant does cause some increased risk for breast cancer. This analysis was performed in conjunction with the family studies project as part of the University of Washington Find My Variant Study. (less)
Family history: yes
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Benign
(Sep 03, 2020)
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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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St. Jude Molecular Pathology, St. Jude Children's Research Hospital
Accession: SCV001439185.1
First in ClinVar: Oct 25, 2020 Last updated: Oct 25, 2020 |
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Benign
(Feb 21, 2020)
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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: SCV000149649.11
First in ClinVar: May 17, 2014 Last updated: Oct 09, 2016 |
Comment:
In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 12610779, 28369373, 30309854, … (more)
In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 12610779, 28369373, 30309854, 30514802, 16437140, 24079673, 17606709, 22811390, 15580553, 17541742, 25925845, 21343334, 17318340, 19468865, 26332594, 24829203, 25637381, 10435620, 19643983, 27153395, 26086041, 28472496, 29979965, 28861920, 24076587, 12826609, 21601526, 30352134, 31016814, 30840781, 30374176, 30306255, 33300245) (less)
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Uncertain significance
(Jul 18, 2019)
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criteria provided, single submitter
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV002042836.1
First in ClinVar: Jan 03, 2022 Last updated: Jan 03, 2022 |
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Uncertain significance
(Sep 21, 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: SCV000889884.3
First in ClinVar: Mar 14, 2019 Last updated: Jan 03, 2022 |
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Likely benign
(Nov 14, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV002050056.1
First in ClinVar: Jan 08, 2022 Last updated: Jan 08, 2022 |
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Likely benign
(Apr 23, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002532717.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Benign
(May 23, 2022)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000920323.2
First in ClinVar: Jun 03, 2019 Last updated: Jul 17, 2022 |
Comment:
Variant summary: TP53 c.869G>A (p.Arg290His) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging … (more)
Variant summary: TP53 c.869G>A (p.Arg290His) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00016 in 251482 control chromosomes, predominantly within the Non-Finnish European subpopulation at a frequency of 0.00021 in the gnomAD database. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 5-fold of the estimated maximal expected allele frequency (MPAF) for a pathogenic variant in TP53 causing Li-Fraumeni Syndrome phenotype (4e-05). In addition, the variant was reported to be found in the FLOSSIES database in 7/9884 women, who were older than age 70 years and have never had cancer. The frequency in this cohort (0.000354) is ~9-fold higher than MPAF, strongly suggesting that the variant is a benign polymorphism. The variant, c.869G>A, has also been reported in the literature in individuals affected with (suspected) Li-Fraumeni Syndrome and various tumor phenotypes, however, without strong evidence for causality. Multiple publications also reported experimental evidence evaluating an impact on protein function, and demonstrated that the variant overall did not decrease Tp53 expression, transcription activity, and function measured at the cellular level (e.g. Quesnel_1999, Zerdoumi_2017, Kotler_2018). Fifteen other submitters, including one expert panel (ClinGen TP53 Variant Curation Expert Panel) have provided clinical-significance assessments for this variant in ClinVar after 2014, and classified the variant as VUS (n=8), likely benign (n=3) / benign (n=4; including the expert panel). Based on the evidence outlined above, the variant was classified as benign. (less)
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Benign
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002550936.4
First in ClinVar: Jul 23, 2022 Last updated: Aug 18, 2023 |
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Benign
(Feb 01, 2024)
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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: SCV000254643.13
First in ClinVar: Oct 11, 2015 Last updated: Feb 14, 2024 |
|
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Likely benign
(Nov 12, 2021)
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criteria provided, single submitter
Method: clinical testing
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TP53-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004749921.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
|
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Benign
(Aug 01, 2023)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV004141812.4
First in ClinVar: Nov 20, 2023 Last updated: Apr 15, 2024 |
Comment:
TP53: PM5, BS3:Supporting, BS1, BS2
Number of individuals with the variant: 1
|
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Uncertain significance
(Jan 25, 2017)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000540572.1
First in ClinVar: Oct 09, 2016 Last updated: Oct 09, 2016 |
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant has been reported in 8 papers, including at least 3 individuals with Li-Fraumeni syndrome as well as individuals with other cancers. The variant has a Max MAF of 0.02% in ExAC (16 alleles) and 0.03% in gnomAD (9 Finnish alleles and 26 non-Finnish European alleles). It is classified with 1 star in ClinVar as VUS by Invitae, Ambry, GeneDx and CSER_CC_NCGL, and as Pathogenic by UCLA. 14 mammals and 2 non-mammals have a His at this position. (less)
Method: Genome/Exome Filtration
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Uncertain significance
(Dec 28, 2017)
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criteria provided, single submitter
Method: clinical testing
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Li-Fraumeni syndrome 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000693679.2
First in ClinVar: Apr 14, 2018 Last updated: May 04, 2018 |
|
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Likely benign
(May 20, 2020)
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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
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000910675.2
First in ClinVar: May 20, 2019 Last updated: Jun 19, 2021 |
|
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Benign
(Feb 08, 2021)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000187277.8
First in ClinVar: Aug 06, 2014 Last updated: Nov 29, 2022 |
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
Number of individuals with the variant: 1
|
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Benign
(Jul 01, 2020)
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criteria provided, single submitter
Method: clinical testing
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None
Affected status: yes
Allele origin:
germline
|
Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002761765.1
First in ClinVar: Dec 17, 2022 Last updated: Dec 17, 2022 |
Comment:
The TP53 c.869G>A variant is classified as Benign (BS2, BS3, BP4, BP6)
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Uncertain significance
(Mar 19, 2018)
|
no assertion criteria provided
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
True Health Diagnostics
Accession: SCV000805309.1
First in ClinVar: Dec 19, 2017 Last updated: Dec 19, 2017 |
|
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Uncertain significance
(-)
|
no assertion criteria provided
Method: clinical testing
|
Familial ovarian cancer
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001552412.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The TP53 p.Arg290His variant was identified in 4 of 1586 proband chromosomes (frequency: 0.003) from French Canadian, Spanish, Portuguese, and American individuals or families with … (more)
The TP53 p.Arg290His variant was identified in 4 of 1586 proband chromosomes (frequency: 0.003) from French Canadian, Spanish, Portuguese, and American individuals or families with BRCA1/2-negative breast or endometrial cancer, Li-Fraumeni syndrome (Arcand 2008, Pennington 2012, Pinto 2009, Bonache 2018) and in 26 of 127,966 (frequency: 0.0002) chromosomes from individuals in an unselected population (de Andrade 2017). The variant was identified in dbSNP (ID: rs55819519) as “With Uncertain significance, other allele”, ClinVar (classified as uncertain significance by GeneDx, Ambry Genetics, Invitae, and five other submitters; and as likely benign by University of Washington Department of Laboratory Medicine). The variant was not identified in LOVD 3.0. The variant was also identified in control databases in 42 of 277220 chromosomes at a frequency of 0.0002, increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 2 of 24030 chromosomes (freq: 0.00008), Other in 3 of 6466 chromosomes (freq: 0.0005), Latino in 2 of 34420 chromosomes (freq: 0.00006), European in 26 of 126714 chromosomes (freq: 0.0002), East Asian in 1 of 18868 chromosomes (freq: 0.00005), Finnish in 7 of 25790 chromosomes (freq: 0.0003), and South Asian in 1 of 30780 chromosomes (freq: 0.00003), while it was not observed in the Ashkenazi Jewish population. The variant was identified in a patient with BRCA1/2-negative breast cancer who did not have a family history consistent with LFS (Arcand 2008) and a patient with LFS who presented in early childhood with multiple primary cancers, as co-occurring in trans with two TP53 variants on the other allele (p.R156H and p.R267Q); family history information was not available for the side of the family where the p.Arg290His variant segregated (Quesnel 1999). In vitro assays of cellular growth suppression and transcriptional activation demonstrated ambiguous results with the variant demonstrating complete loss of function, partial function, or function comparable to wildtype (Quesnel 1999, Zerdoumi 2017, Monti 2011). The p.Arg290 residue is not conserved in mammals and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood the His variant impacts the protein; this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. Altogether, data from family histories, population frequencies, and functional assays are inconsistent and could represent either a benign variant identified in affected individuals as a result of increased population frequency or a pathogenic, hypomorphic variant with reduced penetrance. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. (less)
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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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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. | Fortuno C | Human mutation | 2021 | PMID: 33300245 |
Concern regarding classification of germline TP53 variants as likely pathogenic. | Evans DG | Human mutation | 2019 | PMID: 31016814 |
A quantitative model to predict pathogenicity of missense variants in the TP53 gene. | Fortuno C | Human mutation | 2019 | PMID: 30840781 |
Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance. | Tsai GJ | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 30374176 |
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis. | de Andrade KC | Human mutation | 2019 | PMID: 30352134 |
The mutational landscape of accelerated- and blast-phase myeloproliferative neoplasms impacts patient outcomes. | McNamara CJ | Blood advances | 2018 | PMID: 30327374 |
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 |
Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies. | Drazer MW | Blood advances | 2018 | PMID: 29365323 |
TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children. | Qian M | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2018 | PMID: 29300620 |
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage. | Zerdoumi Y | Human molecular genetics | 2017 | PMID: 28472496 |
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage. | Zerdoumi Y | Human molecular genetics | 2017 | PMID: 28369373 |
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. | Yurgelun MB | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2017 | PMID: 28135145 |
Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. | Döhner H | Blood | 2017 | PMID: 27895058 |
The impact of TP53 mutations and TP53 deletions on survival varies between AML, ALL, MDS and CLL: an analysis of 3307 cases. | Stengel A | Leukemia | 2017 | PMID: 27680515 |
TP53 and Decitabine in Acute Myeloid Leukemia and Myelodysplastic Syndromes. | Welch JS | The New England journal of medicine | 2016 | PMID: 27959731 |
TP53 mutations in newly diagnosed acute myeloid leukemia: Clinicomolecular characteristics, response to therapy, and outcomes. | Kadia TM | Cancer | 2016 | PMID: 27463065 |
Genomic Classification and Prognosis in Acute Myeloid Leukemia. | Papaemmanuil E | The New England journal of medicine | 2016 | PMID: 27276561 |
Specific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival. | Mullany LK | Neoplasia (New York, N.Y.) | 2015 | PMID: 26585234 |
TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution. | Hou HA | Blood cancer journal | 2015 | PMID: 26230955 |
Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry. | Yurgelun MB | JAMA oncology | 2015 | PMID: 26086041 |
TP53 mutation characteristics in therapy-related myelodysplastic syndromes and acute myeloid leukemia is similar to de novo diseases. | Ok CY | Journal of hematology & oncology | 2015 | PMID: 25952993 |
Germline TP53 mutational spectrum in French Canadians with breast cancer. | Arcand SL | BMC medical genetics | 2015 | PMID: 25925845 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
Mapping the p53 transcriptome universe using p53 natural polymorphs. | Wang B | Cell death and differentiation | 2014 | PMID: 24076587 |
Functional characterisation of p53 mutants identified in breast cancers with suboptimal responses to anthracyclines or mitomycin. | Berge EO | Biochimica et biophysica acta | 2013 | PMID: 23246812 |
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. | Pennington KP | Cancer | 2013 | PMID: 22811390 |
A novel hierarchical prognostic model of AML solely based on molecular mutations. | Grossmann V | Blood | 2012 | PMID: 22915647 |
TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome. | Rücker FG | Blood | 2012 | PMID: 22186996 |
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. | Villani A | The Lancet. Oncology | 2011 | PMID: 21601526 |
TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression. | Jädersten M | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2011 | PMID: 21519010 |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. | Monti P | Molecular cancer research : MCR | 2011 | PMID: 21343334 |
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. | Jordan JJ | Molecular cancer research : MCR | 2010 | PMID: 20407015 |
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset. | Pinto C | Familial cancer | 2009 | PMID: 19468865 |
Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families. | Arcand SL | Breast cancer research and treatment | 2008 | PMID: 17541742 |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype. | Monti P | Clinical cancer research : an official journal of the American Association for Cancer Research | 2007 | PMID: 17606709 |
Functional analysis and molecular modeling show a preserved wild-type activity of p53(C238Y). | Ferrone M | Molecular cancer therapeutics | 2006 | PMID: 16818505 |
Acute myelogenous leukemia in a patient with Li-Fraumeni syndrome treated with valproic acid, theophyllamine and all-trans retinoic acid: a case report. | Anensen N | Leukemia | 2006 | PMID: 16437140 |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. | Kato S | Proceedings of the National Academy of Sciences of the United States of America | 2003 | PMID: 12826609 |
A peptide that binds and stabilizes p53 core domain: chaperone strategy for rescue of oncogenic mutants. | Friedler A | Proceedings of the National Academy of Sciences of the United States of America | 2002 | PMID: 11782540 |
Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. | Portwine C | Journal of medical genetics | 2000 | PMID: 10922393 |
p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome. | Quesnel S | Oncogene | 1999 | PMID: 10435620 |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/de5ede53-7b6d-40ad-8a0e-0b3aa4c7ecd8 | - | - | - | - |
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Text-mined citations for rs55819519 ...
HelpRecord last updated Apr 20, 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.