NM_004006.2(DMD):c.9568C>T (p.Arg3190Ter) AND Becker muscular dystrophy

Clinical significance:Pathogenic (Last evaluated: May 5, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000179664.1

Allele description [Variation Report for NM_004006.2(DMD):c.9568C>T (p.Arg3190Ter)]

NM_004006.2(DMD):c.9568C>T (p.Arg3190Ter)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.2
Genomic location:
Preferred name:
NM_004006.2(DMD):c.9568C>T (p.Arg3190Ter)
HGVS:
  • NC_000023.11:g.31206663G>A
  • NG_012232.1:g.2137947C>T
  • NM_004006.2:c.9568C>T
  • NP_003997.1:p.Arg3190Ter
  • LRG_199t1:c.9568C>T
  • LRG_199:g.2137947C>T
  • LRG_199p1:p.Arg3190Ter
  • NC_000023.10:g.31224780G>A
  • NP_003997.1:p.Arg3190*
Protein change:
R3190*; ARG3190TER
Links:
OMIM: 300377.0076; dbSNP: rs104894797
NCBI 1000 Genomes Browser:
rs104894797
Molecular consequence:
  • NM_004006.2:c.9568C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
3

Condition(s)

Name:
Becker muscular dystrophy (BMD)
Identifiers:
MedGen: C0917713; Orphanet: 98895; OMIM: 300376

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000231947EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(May 5, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Citations

PubMed

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.

Van Goor F, Yu H, Burton B, Hoffman BJ.

J Cyst Fibros. 2014 Jan;13(1):29-36. doi: 10.1016/j.jcf.2013.06.008. Epub 2013 Jul 23.

PubMed [citation]
PMID:
23891399

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000231947.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Jul 21, 2018