NM_004006.2(DMD):c.1886C>A (p.Ser629Ter) AND Dilated cardiomyopathy 3B

Clinical significance:Pathogenic (Last evaluated: Apr 9, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000080469.4

Allele description

NM_004006.2(DMD):c.1886C>A (p.Ser629Ter)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.2(DMD):c.1886C>A (p.Ser629Ter)
HGVS:
  • NC_000023.11:g.32565808G>T
  • NG_012232.1:g.778802C>A
  • NM_004006.2:c.1886C>A
  • NP_003997.1:p.Ser629Ter
  • LRG_199t1:c.1886C>A
  • LRG_199:g.778802C>A
  • LRG_199p1:p.Ser629Ter
  • NC_000023.10:g.32583925G>T
  • NP_003997.1:p.Ser629*
Protein change:
S629*
Links:
dbSNP: rs398123867
NCBI 1000 Genomes Browser:
rs398123867
Molecular consequence:
  • NM_004006.2:c.1886C>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000112371EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Apr 9, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000112371.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 9, 2018