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NM_001927.4(DES):c.1364A>T (p.Asp455Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 10, 2024
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:
RCV004611872.1

Allele description [Variation Report for NM_001927.4(DES):c.1364A>T (p.Asp455Val)]

NM_001927.4(DES):c.1364A>T (p.Asp455Val)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.1364A>T (p.Asp455Val)
HGVS:
  • NC_000002.12:g.219425738A>T
  • NG_008043.1:g.12362A>T
  • NM_001382708.1:c.1361A>T
  • NM_001382709.1:c.932A>T
  • NM_001382710.1:c.1295A>T
  • NM_001382711.1:c.1343A>T
  • NM_001382712.1:c.1364A>T
  • NM_001382713.1:c.1094A>T
  • NM_001927.4:c.1364A>TMANE SELECT
  • NP_001369637.1:p.Asp454Val
  • NP_001369638.1:p.Asp311Val
  • NP_001369639.1:p.Asp432Val
  • NP_001369640.1:p.Asp448Val
  • NP_001369641.1:p.Asp455Val
  • NP_001369642.1:p.Asp365Val
  • NP_001918.3:p.Asp455Val
  • LRG_380t1:c.1364A>T
  • LRG_380:g.12362A>T
  • NC_000002.11:g.220290460A>T
  • NM_001927.3:c.1364A>T
Protein change:
D311V
Links:
dbSNP: rs2125172066
NCBI 1000 Genomes Browser:
rs2125172066
Molecular consequence:
  • NM_001382708.1:c.1361A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382709.1:c.932A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382710.1:c.1295A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382711.1:c.1343A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382712.1:c.1364A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382713.1:c.1094A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001927.4:c.1364A>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005107274Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 10, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.

Thomson KL, Ormondroyd E, Harper AR, Dent T, McGuire K, Baksi J, Blair E, Brennan P, Buchan R, Bueser T, Campbell C, Carr-White G, Cook S, Daniels M, Deevi SVV, Goodship J, Hayesmoore JBG, Henderson A, Lamb T, Prasad S, Rayner-Matthews P, Robert L, et al.

Genet Med. 2019 Jul;21(7):1576-1584. doi: 10.1038/s41436-018-0375-z. Epub 2018 Dec 11.

PubMed [citation]
PMID:
30531895
PMCID:
PMC6614037

Details of each submission

From Ambry Genetics, SCV005107274.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.D455V variant (also known as c.1364A>T), located in coding exon 8 of the DES gene, results from an A to T substitution at nucleotide position 1364. The aspartic acid at codon 455 is replaced by valine, an amino acid with highly dissimilar properties. This variant has been reported in a hypertrophic cardiomyopathy cohort, but clinical details were limited (Thomson KL et al. Genet Med, 2019 Jul;21:1576-1584). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024