NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter) AND Duchenne muscular dystrophy

Clinical significance:Pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000990653.1

Allele description [Variation Report for NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter)]

NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter)
HGVS:
  • NC_000023.11:g.32365065C>T
  • NG_012232.1:g.979545G>A
  • NM_000109.4:c.4956G>A
  • NM_004006.3:c.4980G>AMANE SELECT
  • NM_004009.3:c.4968G>A
  • NM_004010.3:c.4611G>A
  • NM_004011.4:c.957G>A
  • NM_004012.4:c.948G>A
  • NP_000100.3:p.Trp1652Ter
  • NP_003997.2:p.Trp1660Ter
  • NP_004000.1:p.Trp1656Ter
  • NP_004001.1:p.Trp1537Ter
  • NP_004002.3:p.Trp319Ter
  • NP_004003.2:p.Trp316Ter
  • LRG_199:g.979545G>A
  • NC_000023.10:g.32383182C>T
Protein change:
W1537*
Links:
dbSNP: rs1603631752
NCBI 1000 Genomes Browser:
rs1603631752
Molecular consequence:
  • NM_000109.4:c.4956G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004006.3:c.4980G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004009.3:c.4968G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004010.3:c.4611G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004011.4:c.957G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004012.4:c.948G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Duchenne muscular dystrophy (DMD)
Synonyms:
Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Identifiers:
MONDO: MONDO:0010679; MedGen: C0013264; Orphanet: 98896; OMIM: 310200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001141672Mendelicscriteria provided, single submitter
Pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001141672.1

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

Last Updated: Jun 14, 2021

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