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NM_004006.3(DMD):c.9564-30A>G AND Becker muscular dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 20, 2024
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:
RCV004759780.2

Allele description [Variation Report for NM_004006.3(DMD):c.9564-30A>G]

NM_004006.3(DMD):c.9564-30A>G

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.2
Genomic location:
Preferred name:
NM_004006.3(DMD):c.9564-30A>G
HGVS:
  • NC_000023.11:g.31206697T>C
  • NG_012232.1:g.2137913A>G
  • NM_000109.4:c.9540-30A>G
  • NM_004006.2:c.9564-30A>G
  • NM_004006.3:c.9564-30A>GMANE SELECT
  • NM_004009.3:c.9552-30A>G
  • NM_004010.3:c.9195-30A>G
  • NM_004011.4:c.5541-30A>G
  • NM_004012.4:c.5532-30A>G
  • NM_004013.3:c.2184-30A>G
  • NM_004014.3:c.1377-30A>G
  • NM_004015.3:c.360-30A>G
  • NM_004016.3:c.360-30A>G
  • NM_004017.3:c.360-30A>G
  • NM_004018.3:c.360-30A>G
  • NM_004019.3:c.360-30A>G
  • NM_004020.4:c.2184-30A>G
  • NM_004021.3:c.2184-30A>G
  • NM_004022.3:c.2184-30A>G
  • NM_004023.3:c.2184-30A>G
  • LRG_199t1:c.9564-30A>G
  • LRG_199:g.2137913A>G
  • NC_000023.10:g.31224814T>C
Molecular consequence:
  • NM_000109.4:c.9540-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004006.3:c.9564-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004009.3:c.9552-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004010.3:c.9195-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004011.4:c.5541-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004012.4:c.5532-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004013.3:c.2184-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004014.3:c.1377-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004015.3:c.360-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004016.3:c.360-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004017.3:c.360-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004018.3:c.360-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004019.3:c.360-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004020.4:c.2184-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004021.3:c.2184-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004022.3:c.2184-30A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004023.3:c.2184-30A>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Becker muscular dystrophy (BMD)
Synonyms:
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE
Identifiers:
MONDO: MONDO:0010311; MedGen: C0917713; Orphanet: 98895; OMIM: 300376

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005368749Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
no assertion criteria provided
Pathogenic
(May 20, 2024) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes21not providednot providedyesclinical testing

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV005368749.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providedyesclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providedBloodnot provided2not provided1not provided

Last Updated: Apr 13, 2025