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: 1807242 Accession: VCV001807242.2
- Type and length
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Deletion, -
- Location
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Cytogenetic: Xp21.1 X: 31792319-31893295 (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 Dec 31, 2022 Jan 26, 2024 Jun 13, 2023 - HGVS
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- 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
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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
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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DMD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9080 | 9369 |
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 13, 2023 | RCV002475199.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jun 13, 2023)
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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
Accession: SCV002771495.2
First in ClinVar: Dec 31, 2022 Last updated: Jan 26, 2024 |
Comment:
This variant is expected to result in the loss of a functional protein. Similar deletions of exons 49-50 have been reported primarily in patients with … (more)
This variant is expected to result in the loss of a functional protein. Similar deletions of exons 49-50 have been reported primarily in patients with Duchenne muscular dystrophy (DMD), and also in a few individuals with Becker muscular dystrophy (BMD; PMID: 19937601, 28610567). Similar variants have 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 |
Molecular and Clinical Characteristics of a National Cohort of Paediatric Duchenne Muscular Dystrophy Patients in Norway. | Annexstad EJ | Journal of neuromuscular diseases | 2019 | PMID: 31381525 |
Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort. | Polavarapu K | Journal of neurology | 2019 | PMID: 31139960 |
Genotype-phenotype correlation in Becker muscular dystrophy in Chinese patients. | Yuan R | Journal of human genetics | 2018 | PMID: 29976999 |
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 |
Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects. | Suh MR | Yonsei medical journal | 2017 | PMID: 28332368 |
Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy. | Wang H | Prenatal diagnosis | 2017 | PMID: 28181689 |
Genetic profile of Brazilian patients with dystrophinopathies. | de Almeida PAD | Clinical genetics | 2017 | PMID: 28116794 |
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies. | Zhong J | Muscle & nerve | 2017 | PMID: 27750387 |
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. | Cho A | Muscle & nerve | 2017 | PMID: 27593222 |
Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy. | Wang Y | Molecular genetics and genomics : MGG | 2014 | PMID: 24770780 |
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 |
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 |
Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy. | Rani AQ | Journal of neurogenetics | 2013 | PMID: 23438214 |
Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene. | Ankala A | Genome research | 2012 | PMID: 22090376 |
Dystrophin gene mutation analysis in Iranian males and females using multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification methods. | Khordadpoor-Deilamani F | Genetic testing and molecular biomarkers | 2011 | PMID: 21815800 |
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. | Flanigan KM | Human mutation | 2009 | PMID: 19937601 |
Point mutations in Czech DMD/BMD patients and their phenotypic outcome. | Sedlácková J | Neuromuscular disorders : NMD | 2009 | PMID: 19783145 |
Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapy. | Goyenvalle A | Molecular therapy : the journal of the American Society of Gene Therapy | 2009 | PMID: 19455105 |
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 |
Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives. | Pikó H | Neuromuscular disorders : NMD | 2009 | PMID: 19084397 |
Microarray-based mutation detection in the dystrophin gene. | Hegde MR | Human mutation | 2008 | PMID: 18663755 |
MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients. | Todorova A | Neuromuscular disorders : NMD | 2008 | PMID: 18653336 |
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. | Zeng F | Human mutation | 2008 | PMID: 17854090 |
Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects. | Hwa HL | Journal of the Formosan Medical Association = Taiwan yi zhi | 2007 | PMID: 17561468 |
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 |
Experience and strategy for the molecular testing of Duchenne muscular dystrophy. | Prior TW | The Journal of molecular diagnostics : JMD | 2005 | PMID: 16049303 |
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). | Gatta V | Human genetics | 2005 | PMID: 15841391 |
MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. | Janssen B | Neurogenetics | 2005 | PMID: 15655674 |
Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. | Schwartz M | Genetic testing | 2004 | PMID: 15684864 |
Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy. | Giliberto F | Neurological research | 2004 | PMID: 14977063 |
Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy. | Al-Jumah M | Saudi medical journal | 2002 | PMID: 12518196 |
Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians. | Onengüt S | Annals of human genetics | 2000 | PMID: 11388892 |
Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies. | Herczegfalvi A | Neuromuscular disorders : NMD | 1999 | PMID: 10619712 |
Duchenne and Becker muscular dystrophies: an Estonian experience. | Talkop UA | Brain & development | 1999 | PMID: 10392746 |
Molecular characterisation of Duchenne muscular dystrophy and phenotypic correlation. | Mital A | Journal of the neurological sciences | 1998 | PMID: 9619643 |
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test. | Tuffery S | Human genetics | 1998 | PMID: 9544849 |
Proportion and pattern of dystrophin gene deletions in north Indian Duchenne and Becker muscular dystrophy patients. | Singh V | Human genetics | 1997 | PMID: 9048922 |
Deletion patterns of Duchenne and Becker muscular dystrophies in Greece. | Florentin L | Journal of medical genetics | 1995 | PMID: 7897627 |
Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec. | Simard LR | Human genetics | 1992 | PMID: 1618490 |
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability. | Hodgson SV | Neuromuscular disorders : NMD | 1992 | PMID: 1483053 |
Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies. | Claustres M | Human genetics | 1991 | PMID: 1684565 |
Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. | Baumbach LL | Neurology | 1989 | PMID: 2927671 |
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. | Bakker E | Journal of medical genetics | 1989 | PMID: 2810338 |
Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophies. | Gilgenkrantz H | Genomics | 1989 | PMID: 2613240 |
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. | Hodgson S | Journal of medical genetics | 1989 | PMID: 2585468 |
Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. | Gillard EF | American journal of human genetics | 1989 | PMID: 2491010 |
Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. | Darras BT | American journal of human genetics | 1988 | PMID: 2903663 |
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Text-mined citations for this variant ...
HelpRecord last updated May 08, 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.