NM_001927.4(DES):c.243C>T (p.Ser81=) AND not provided

Clinical significance:Likely benign (Last evaluated: Feb 2, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001697118.1

Allele description [Variation Report for NM_001927.4(DES):c.243C>T (p.Ser81=)]

NM_001927.4(DES):c.243C>T (p.Ser81=)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.243C>T (p.Ser81=)
HGVS:
  • NC_000002.12:g.219418705C>T
  • NG_008043.1:g.5329C>T
  • NM_001927.4:c.243C>TMANE SELECT
  • NP_001918.3:p.Ser81=
  • LRG_380t1:c.243C>T
  • LRG_380:g.5329C>T
  • NC_000002.11:g.220283427C>T
  • NM_001927.3:c.243C>T
  • p.Ser81Ser
Links:
dbSNP: rs201594392
NCBI 1000 Genomes Browser:
rs201594392
Molecular consequence:
  • NM_001927.4:c.243C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000716761GeneDxcriteria provided, single submitter
Likely benign
(Feb 2, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000716761.2

#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: Nov 27, 2021

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