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NM_004006.3(DMD):c.3603+15del AND not provided

Germline classification:
Likely benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001573887.1

Allele description [Variation Report for NM_004006.3(DMD):c.3603+15del]

NM_004006.3(DMD):c.3603+15del

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.3603+15del
HGVS:
  • NC_000023.11:g.32454659del
  • NG_012232.1:g.889963del
  • NM_000109.4:c.3579+15del
  • NM_004006.3:c.3603+15delMANE SELECT
  • NM_004009.3:c.3591+15del
  • NM_004010.3:c.3234+15del
  • LRG_199:g.889963del
  • NC_000023.10:g.32472764del
  • NC_000023.10:g.32472776del
  • NM_004006.2:c.3603+3delA
Links:
dbSNP: rs5902031
NCBI 1000 Genomes Browser:
rs5902031
Molecular consequence:
  • NM_000109.4:c.3579+15del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004006.3:c.3603+15del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004009.3:c.3591+15del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004010.3:c.3234+15del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001800396Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001800396.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024