NM_001927.4(DES):c.38C>T (p.Ser13Phe) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 2, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
5 submissions [Details]
Record status:
current
Accession:
RCV000056801.8

Allele description [Variation Report for NM_001927.4(DES):c.38C>T (p.Ser13Phe)]

NM_001927.4(DES):c.38C>T (p.Ser13Phe)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.38C>T (p.Ser13Phe)
HGVS:
  • NC_000002.12:g.219418500C>T
  • NG_008043.1:g.5124C>T
  • NG_046330.1:g.18892C>T
  • NM_001927.4:c.38C>TMANE SELECT
  • NP_001918.3:p.Ser13Phe
  • LRG_380t1:c.38C>T
  • LRG_380:g.5124C>T
  • NC_000002.11:g.220283222C>T
  • NM_001927.3:c.38C>T
  • P17661:p.Ser13Phe
  • c.38C>T
Protein change:
S13F; SER13PHE
Links:
UniProtKB: P17661#VAR_067208; OMIM: 125660.0019; dbSNP: rs62636495
NCBI 1000 Genomes Browser:
rs62636495
Molecular consequence:
  • NM_001927.4:c.38C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000087914Epithelial Biology; Institute of Medical Biology, Singaporeno assertion providednot providednot providednot provided

SCV000332859EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Mar 2, 2017)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV001740070Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedPathogenicgermlineclinical testing

SCV001925003Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

SCV001952696Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.

Pica EC, Kathirvel P, Pramono ZA, Lai PS, Yee WC.

Neuromuscul Disord. 2008 Feb;18(2):178-82. Epub 2007 Dec 3.

PubMed [citation]
PMID:
18061454

Disease mutations in the "head" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties.

Sharma S, Mücke N, Katus HA, Herrmann H, Bär H.

J Mol Med (Berl). 2009 Dec;87(12):1207-19. doi: 10.1007/s00109-009-0521-9. Epub 2009 Sep 8.

PubMed [citation]
PMID:
19763525
See all PubMed Citations (5)

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000087914.1

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000332859.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001740070.3

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

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001925003.1

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

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001952696.1

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

Last Updated: Oct 2, 2021

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