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NC_000023.10:g.(?_31514895)_(31986641_?)del AND Duchenne muscular dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 5, 2020
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:
RCV001384705.2

Allele description

NC_000023.10:g.(?_31514895)_(31986641_?)del

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp21.1
Genomic location:
ChrX: 31514895 - 31986641 (on Assembly GRCh37)
Preferred name:
NC_000023.10:g.(?_31514895)_(31986641_?)del
HGVS:
NC_000023.10:g.(?_31514895)_(31986641_?)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
SCV001584305Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 5, 2020) 		germlineclinical testing

PubMed (5)
[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

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, et al.

Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114.

PubMed [citation]
PMID:
19937601
PMCID:
PMC3404892

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.

Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM.

Am J Hum Genet. 1991 Jul;49(1):54-67.

PubMed [citation]
PMID:
2063877
PMCID:
PMC1683222
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001584305.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This variant is an in-frame deletion of the genomic region encompassing exon(s) 45-57 of the DMD gene. It preserves the integrity of the reading frame. This variant has been observed in individual(s) with DMD-related conditions (PMID: 19937601). The region of the DMD gene that includes exon(s) 45-46 has been determined to be clinically significant (PMID: 2063877, 15723292, 25244321). Therefore, deletions that encompass that region are likely to disrupt protein function and cause disease. 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