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Single allele AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 29, 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:
RCV001663748.2

Allele description [Variation Report for Single allele]

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp21.1
Genomic location:
ChrX: 31747738 - 31838210 (on Assembly GRCh37)
HGVS:
NC_000023.10:g.(?_31747738)_(31838210_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001879362Athena Diagnostics Inc
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Jun 29, 2022) 		unknownclinical testing

PubMed (24)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle.

Sironi M, Bardoni A, Felisari G, Cagliani R, Robotti M, Comi GP, Moggio M, Bresolin N.

J Neurol Sci. 2001 May 1;186(1-2):51-7.

PubMed [citation]
PMID:
11412872

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prósper-Gutiérrez B, De La Puente-Alonso F, Bell CG, Mowat DR, Johnston HM, Buckley MF.

J Med Genet. 2007 Jun;44(6):368-72. Epub 2007 Jan 26.

PubMed [citation]
PMID:
17259292
PMCID:
PMC2740880
See all PubMed Citations (24)

Details of each submission

From Athena Diagnostics Inc, SCV001879362.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (24)

Description

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)).

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

Last Updated: Dec 31, 2022