NM_001927.4(DES):c.735+1G>A AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 23, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000393713.2

Allele description [Variation Report for NM_001927.4(DES):c.735+1G>A]

NM_001927.4(DES):c.735+1G>A

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.735+1G>A
HGVS:
  • NC_000002.12:g.219420347G>A
  • NG_008043.1:g.6971G>A
  • NM_001927.4:c.735+1G>AMANE SELECT
  • LRG_380t1:c.735+1G>A
  • LRG_380:g.6971G>A
  • NC_000002.11:g.220285069G>A
  • NM_001927.3:c.735+1G>A
  • c.735+1G>A
Links:
dbSNP: rs397516698
NCBI 1000 Genomes Browser:
rs397516698
Molecular consequence:
  • NM_001927.4:c.735+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000343204EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Jun 23, 2016)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Desmin myopathy.

Goldfarb LG, Vicart P, Goebel HH, Dalakas MC.

Brain. 2004 Apr;127(Pt 4):723-34. Epub 2004 Jan 14. Review.

PubMed [citation]
PMID:
14724127

Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.

Gudkova A, Kostareva A, Sjoberg G, Smolina N, Turalchuk M, Kuznetsova I, Rybakova M, Edstrom L, Shlyakhto E, Sejersen T.

Pediatr Cardiol. 2013 Feb;34(2):467-70. doi: 10.1007/s00246-012-0312-x. Epub 2012 Apr 7.

PubMed [citation]
PMID:
22484823

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000343204.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 27, 2021

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