ClinVar Genomic variation as it relates to human health
Single allele
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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Single allele
Variation ID: 1256406 Accession: VCV001256406.2
- Type and length
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Deletion, 90,473 bp
- Location
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Cytogenetic: Xp21.1 X: 31747738-31838210 (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 Sep 19, 2021 Dec 31, 2022 Jun 29, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNC_000023.10:g.(?_31747738)_(31838210_?)del - Protein change
- Other names
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- Canonical SPDI
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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
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The frequency of the allele represented by this VCV record.
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- Links
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
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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
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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DMD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9039 | 9326 |
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
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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) |
criteria provided, single submitter
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Jun 29, 2022 | RCV001663748.2 |
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
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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
(Jun 29, 2022)
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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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Athena Diagnostics Inc
Accession: SCV001879362.2
First in ClinVar: Sep 19, 2021 Last updated: Dec 31, 2022 |
Comment:
This variant is expected to result in the loss of a functional protein. Multiple unrelated males with Duchenne muscular dystrophy (DMD) have been reported with … (more)
This variant is expected to result in the loss of a functional protein. Multiple unrelated males with Duchenne muscular dystrophy (DMD) have been reported with similar deletions of exons 50-52. This variant has not been reported in large, multi-ethnic general populations. (Genome Aggregation Database (gnomAD), Cambridge, MA (URL: http://gnomad.broadinstitute.org)). (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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Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies. | Ling C | Human mutation | 2020 | PMID: 31705731 |
Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling. | Toksoy G | Neuromuscular disorders : NMD | 2019 | PMID: 31443951 |
Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing. | Wang D | Frontiers in pharmacology | 2019 | PMID: 31404137 |
Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine. | Mohammed F | PloS one | 2018 | PMID: 29847600 |
MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India. | Deepha S | BMC medical genetics | 2017 | PMID: 28610567 |
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. | Guo R | Journal of human genetics | 2015 | PMID: 25972034 |
Germinal mosaicism in a sample of families with Duchenne/Becker muscular dystrophy with partial deletions in the DMD gene. | Bermúdez-López C | Genetic testing and molecular biomarkers | 2014 | PMID: 24236769 |
Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients. | Tran VK | Journal of neurogenetics | 2013 | PMID: 24099565 |
Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India. | Basumatary LJ | Journal of neurosciences in rural practice | 2013 | PMID: 23914114 |
Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing. | Chen WJ | Clinica chimica acta; international journal of clinical chemistry | 2013 | PMID: 23588064 |
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. | Flanigan KM | Human mutation | 2009 | PMID: 19937601 |
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. | Tuffery-Giraud S | Human mutation | 2009 | PMID: 19367636 |
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. | del Gaudio D | Human mutation | 2008 | PMID: 18752307 |
Intragenic deletions in the dystrophin gene in 211 Pakistani Duchenne muscular dystrophy patients. | Hassan MJ | Pediatrics international : official journal of the Japan Pediatric Society | 2008 | PMID: 18353051 |
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. | Zeng F | Human mutation | 2008 | PMID: 17854090 |
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. | Taylor PJ | Journal of medical genetics | 2007 | PMID: 17259292 |
Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. | Stockley TL | Genetic testing | 2006 | PMID: 17253928 |
Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity. | Carsana A | Annals of human genetics | 2005 | PMID: 15845029 |
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. | Dent KM | American journal of medical genetics. Part A | 2005 | PMID: 15723292 |
Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle. | Sironi M | Journal of the neurological sciences | 2001 | PMID: 11412872 |
Are there ethnic differences in deletions in the dystrophin gene? | Banerjee M | American journal of medical genetics | 1997 | PMID: 9028449 |
Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies. | Claustres M | Human genetics | 1991 | PMID: 1684565 |
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. | Hodgson S | Journal of medical genetics | 1989 | PMID: 2585468 |
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Text-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022
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.