ClinVar Genomic variation as it relates to human health
NM_206933.2(USH2A):c.[2299del;4714C>T]
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
NM_206933.2(USH2A):c.[2299del;4714C>T]
- Other names
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- Functional consequence
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- Links
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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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USH2A | - | - |
GRCh38 GRCh37 |
6918 | 8387 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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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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Sep 1, 2016 | RCV000678639.6 |
Submissions - Germline
Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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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
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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
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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
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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
(Sep 01, 2016)
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no assertion criteria provided
Method: clinical testing
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Usher syndrome type 2A
Affected status: yes
Allele origin:
inherited
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Accession: SCV000804727.2
First in ClinVar: Sep 10, 2018 Last updated: Sep 10, 2018 |
Number of individuals with the variant: 1
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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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The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. | Peter VG | PNAS nexus | 2023 | PMID: 36909829 |
Usher Syndrome Type II. | Adam MP | - | 2023 | PMID: 20301515 |
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes. | Feenstra HM | Genes | 2022 | PMID: 36011334 |
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK). | Zampaglione E | Genetics in medicine : official journal of the American College of Medical Genetics | 2022 | PMID: 34906470 |
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease. | Jiman OA | European journal of human genetics : EJHG | 2020 | PMID: 31836858 |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | Jespersgaard C | Scientific reports | 2019 | PMID: 30718709 |
Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation. | Calzetti G | American journal of ophthalmology | 2018 | PMID: 29953849 |
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. | Neuhaus C | Molecular genetics & genomic medicine | 2017 | PMID: 28944237 |
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. | Carss KJ | American journal of human genetics | 2017 | PMID: 28041643 |
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. | Sloan-Heggen CM | Human genetics | 2016 | PMID: 26969326 |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. | Ellingford JM | Ophthalmology | 2016 | PMID: 26872967 |
Molecular diagnostic experience of whole-exome sequencing in adult patients. | Posey JE | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26633545 |
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations. | Liquori A | Human mutation | 2016 | PMID: 26629787 |
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. | Lenassi E | European journal of human genetics : EJHG | 2015 | PMID: 25649381 |
Targeted next generation sequencing for molecular diagnosis of Usher syndrome. | Aparisi MJ | Orphanet journal of rare diseases | 2014 | PMID: 25404053 |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. | Wang J | Investigative ophthalmology & visual science | 2014 | PMID: 25097241 |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. | Wang J | Investigative ophthalmology & visual science | 2014 | PMID: 25097241 |
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. | Baux D | Human mutation | 2014 | PMID: 24944099 |
The effect of the common c.2299delG mutation in USH2A on RNA splicing. | Lenassi E | Experimental eye research | 2014 | PMID: 24607488 |
Expressivity of hearing loss in cases with Usher syndrome type IIA. | Sadeghi AM | International journal of audiology | 2013 | PMID: 24160897 |
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. | Steele-Stallard HB | Orphanet journal of rare diseases | 2013 | PMID: 23924366 |
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. | O'Sullivan J | Journal of medical genetics | 2012 | PMID: 22581970 |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. | Le Quesne Stabej P | Journal of medical genetics | 2012 | PMID: 22135276 |
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. | Song J | Investigative ophthalmology & visual science | 2011 | PMID: 22025579 |
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. | McGee TL | Journal of medical genetics | 2010 | PMID: 20507924 |
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. | McGee TL | Journal of medical genetics | 2010 | PMID: 20507924 |
The USH2A c.2299delG mutation: dating its common origin in a Southern European population. | Aller E | European journal of human genetics : EJHG | 2010 | PMID: 20145675 |
The USH2A c.2299delG mutation: dating its common origin in a Southern European population. | Aller E | European journal of human genetics : EJHG | 2010 | PMID: 20145675 |
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. | Yan D | Journal of human genetics | 2009 | PMID: 19881469 |
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. | Sandberg MA | Investigative ophthalmology & visual science | 2008 | PMID: 18641288 |
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. | Baux D | Human mutation | 2007 | PMID: 17405132 |
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. | Baux D | Human mutation | 2007 | PMID: 17405132 |
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. | Aller E | Journal of medical genetics | 2006 | PMID: 17085681 |
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. | Seyedahmadi BJ | Experimental eye research | 2004 | PMID: 15325563 |
Mutational spectrum in Usher syndrome type II. | Ouyang XM | Clinical genetics | 2004 | PMID: 15025721 |
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. | Aller E | European journal of human genetics : EJHG | 2004 | PMID: 14970843 |
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. | Bernal S | Journal of medical genetics | 2003 | PMID: 12525556 |
Iron dextran complex. | National Toxicology Program | Report on carcinogens : carcinogen profiles | 2002 | PMID: 15326663 |
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. | Nájera C | Human mutation | 2002 | PMID: 12112664 |
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. | Dreyer B | American journal of human genetics | 2001 | PMID: 11402400 |
Identification of novel USH2A mutations: implications for the structure of USH2A protein. | Dreyer B | European journal of human genetics : EJHG | 2000 | PMID: 10909849 |
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. | Weston MD | American journal of human genetics | 2000 | PMID: 10729113 |
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. | Liu XZ | American journal of human genetics | 1999 | PMID: 10090909 |
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. | Eudy JD | Science (New York, N.Y.) | 1998 | PMID: 9624053 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=USH2A | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=USH2A | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/cb930024-7594-4d61-95e2-e3c66fb53267 | - | - | - | - |
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Text-mined citations for this variant ...
HelpRecord last updated Apr 15, 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.