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NM_001927.4(DES):c.517C>A (p.Arg173Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 7, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002341621.1

Allele description

NM_001927.4(DES):c.517C>A (p.Arg173Ser)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.517C>A (p.Arg173Ser)
HGVS:
  • NC_000002.12:g.219418979C>A
  • NG_008043.1:g.5603C>A
  • NM_001382708.1:c.517C>A
  • NM_001382709.1:c.517C>A
  • NM_001382710.1:c.517C>A
  • NM_001382711.1:c.517C>A
  • NM_001382712.1:c.517C>A
  • NM_001382713.1:c.495+22C>A
  • NM_001927.4:c.517C>AMANE SELECT
  • NP_001369637.1:p.Arg173Ser
  • NP_001369638.1:p.Arg173Ser
  • NP_001369639.1:p.Arg173Ser
  • NP_001369640.1:p.Arg173Ser
  • NP_001369641.1:p.Arg173Ser
  • NP_001918.3:p.Arg173Ser
  • LRG_380t1:c.517C>A
  • LRG_380:g.5603C>A
  • NC_000002.11:g.220283701C>A
  • NM_001927.3:c.517C>A
  • NM_001927.4:c.517C>A
Protein change:
R173S
Links:
dbSNP: rs752944882
NCBI 1000 Genomes Browser:
rs752944882
Molecular consequence:
  • NM_001382713.1:c.495+22C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001382708.1:c.517C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382709.1:c.517C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382710.1:c.517C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382711.1:c.517C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382712.1:c.517C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001927.4:c.517C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002641404Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Oct 7, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002641404.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.R173S variant (also known as c.517C>A), located in coding exon 1 of the DES gene, results from a C to A substitution at nucleotide position 517. The arginine at codon 173 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 5, 2024