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NM_004006.3(DMD):c.1812+1G>A AND Dilated cardiomyopathy 3B

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 7, 2018
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:
RCV000984163.2

Allele description [Variation Report for NM_004006.3(DMD):c.1812+1G>A]

NM_004006.3(DMD):c.1812+1G>A

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.1812+1G>A
HGVS:
  • NC_000023.11:g.32573529C>T
  • NG_012232.1:g.771081G>A
  • NM_000109.4:c.1788+1G>A
  • NM_004006.3:c.1812+1G>AMANE SELECT
  • NM_004009.3:c.1800+1G>A
  • NM_004010.3:c.1443+1G>A
  • LRG_199t1:c.1812+1G>A
  • LRG_199:g.771081G>A
  • NC_000023.10:g.32591646C>T
  • NM_004006.2:c.1812+1G>A
Links:
dbSNP: rs373286166
NCBI 1000 Genomes Browser:
rs373286166
Molecular consequence:
  • NM_000109.4:c.1788+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004006.3:c.1812+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004009.3:c.1800+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004010.3:c.1443+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Dilated cardiomyopathy 3B (CMD3B)
Synonyms:
CARDIOMYOPATHY, DILATED, X-LINKED; CMD3B: DMD-Related Dilated Cardiomyopathy
Identifiers:
MONDO: MONDO:0010542; MedGen: C3668940; Orphanet: 154; OMIM: 302045

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001132170Counsyl
no assertion criteria provided
Likely pathogenic
(Dec 7, 2018) 		unknownclinical testing

PubMed (5)
[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

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

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.

Bovolenta M, Scotton C, Falzarano MS, Gualandi F, Ferlini A.

Hum Mutat. 2012 Mar;33(3):572-81. doi: 10.1002/humu.22017. Epub 2012 Jan 25.

PubMed [citation]
PMID:
22223181
See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV001132170.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024