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NM_001927.4(DES):c.1354G>A (p.Glu452Lys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 8, 2022
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:
RCV002383327.2

Allele description [Variation Report for NM_001927.4(DES):c.1354G>A (p.Glu452Lys)]

NM_001927.4(DES):c.1354G>A (p.Glu452Lys)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.1354G>A (p.Glu452Lys)
HGVS:
  • NC_000002.12:g.219425728G>A
  • NG_008043.1:g.12352G>A
  • NM_001382708.1:c.1351G>A
  • NM_001382709.1:c.922G>A
  • NM_001382710.1:c.1285G>A
  • NM_001382711.1:c.1333G>A
  • NM_001382712.1:c.1354G>A
  • NM_001382713.1:c.1084G>A
  • NM_001927.4:c.1354G>AMANE SELECT
  • NP_001369637.1:p.Glu451Lys
  • NP_001369638.1:p.Glu308Lys
  • NP_001369639.1:p.Glu429Lys
  • NP_001369640.1:p.Glu445Lys
  • NP_001369641.1:p.Glu452Lys
  • NP_001369642.1:p.Glu362Lys
  • NP_001918.3:p.Glu452Lys
  • NP_001918.3:p.Glu452Lys
  • LRG_380t1:c.1354G>A
  • LRG_380:g.12352G>A
  • LRG_380p1:p.Glu452Lys
  • NC_000002.11:g.220290450G>A
  • NM_001927.3:c.1354G>A
Protein change:
E308K
Molecular consequence:
  • NM_001382708.1:c.1351G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382709.1:c.922G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382710.1:c.1285G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382711.1:c.1333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382712.1:c.1354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382713.1:c.1084G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001927.4:c.1354G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002693126Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 8, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002693126.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.E452K variant (also known as c.1354G>A), located in coding exon 8 of the DES gene, results from a G to A substitution at nucleotide position 1354. The glutamic acid at codon 452 is replaced by lysine, an amino acid with similar 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024