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NM_001927.4(DES):c.1009G>A (p.Ala337Thr) AND Dilated cardiomyopathy 1I

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 14, 2023
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:
RCV003448306.2

Allele description [Variation Report for NM_001927.4(DES):c.1009G>A (p.Ala337Thr)]

NM_001927.4(DES):c.1009G>A (p.Ala337Thr)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.1009G>A (p.Ala337Thr)
HGVS:
  • NC_000002.12:g.219420939G>A
  • NG_008043.1:g.7563G>A
  • NM_001927.4:c.1009G>AMANE SELECT
  • NP_001918.3:p.Ala337Thr
  • LRG_380t1:c.1009G>A
  • LRG_380:g.7563G>A
  • NC_000002.11:g.220285661G>A
  • NM_001927.3:c.1009G>A
Protein change:
A337T
Links:
dbSNP: rs59962885
NCBI 1000 Genomes Browser:
rs59962885
Molecular consequence:
  • NM_001927.4:c.1009G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1I (CMD1I)
Identifiers:
MONDO: MONDO:0011482; MedGen: C1858154; Orphanet: 154; OMIM: 604765

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004176380Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 14, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV004176380.1

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

Description

The missense c.1009G>A (p.Ala337Thr) variant in the DES gene has been detected in a sudden death cohort, and in a non_x0002_compaction cardiomyopathy cohort; however, details are limited (van Waning, Jaap I et al., 2018; Lin, Ying et al., 2017). This variant is reported with the allele frequency (0.006%) in the gnomAD Exomes and novel in 1000 Genomes. It is submitted to ClinVar as Uncertain Significance. The amino acid Alanine at position 337 is changed to a Threonine changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ala337Thr in DES is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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

Last Updated: Apr 20, 2024