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NC_000023.10:g.(?_31462578)_(31986651_?)del AND Duchenne muscular dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 11, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001384706.6

Allele description

NC_000023.10:g.(?_31462578)_(31986651_?)del

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp21.2-21.1
Genomic location:
ChrX: 31462578 - 31986651 (on Assembly GRCh37)
Preferred name:
NC_000023.10:g.(?_31462578)_(31986651_?)del
HGVS:
NC_000023.10:g.(?_31462578)_(31986651_?)del

Condition(s)

Name:
Duchenne muscular dystrophy (DMD)
Synonyms:
Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Identifiers:
MONDO: MONDO:0010679; MedGen: C0013264; Orphanet: 98896; OMIM: 310200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001584306Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 11, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Dystrophin gene deletions in South Indian Duchenne muscular dystrophy patients.

Mallikarjuna Rao GN, Hussain T, Geetha Devi N, Jain S, Chandak GR, Ananda Raj MP.

Indian J Med Sci. 2003 Jan;57(1):1-6.

PubMed [citation]
PMID:
14514278

Denaturing HPLC coupled with multiplex PCR for rapid detection of large deletions in Duchenne muscular dystrophy carriers.

Hung CC, Su YN, Lin CY, Yang CC, Lee WT, Chien SC, Lin WL, Lee CN.

Clin Chem. 2005 Jul;51(7):1252-6. No abstract available.

PubMed [citation]
PMID:
15976104
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001584306.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant is a gross deletion of the genomic region encompassing exon(s) 45-60 of the DMD gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with DMD-related dystrophinopathies (PMID: 14514278, 15976104, 17259292). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 18, 2023