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NM_001927.4(DES):c.376G>A (p.Val126Met) AND Primary dilated cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 2, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001254769.1

Allele description [Variation Report for NM_001927.4(DES):c.376G>A (p.Val126Met)]

NM_001927.4(DES):c.376G>A (p.Val126Met)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.376G>A (p.Val126Met)
HGVS:
  • NC_000002.12:g.219418838G>A
  • NG_008043.1:g.5462G>A
  • NM_001382708.1:c.376G>A
  • NM_001382709.1:c.376G>A
  • NM_001382710.1:c.376G>A
  • NM_001382711.1:c.376G>A
  • NM_001382712.1:c.376G>A
  • NM_001382713.1:c.376G>A
  • NM_001927.4:c.376G>AMANE SELECT
  • NP_001369637.1:p.Val126Met
  • NP_001369638.1:p.Val126Met
  • NP_001369639.1:p.Val126Met
  • NP_001369640.1:p.Val126Met
  • NP_001369641.1:p.Val126Met
  • NP_001369642.1:p.Val126Met
  • NP_001918.3:p.Val126Met
  • LRG_380t1:c.376G>A
  • LRG_380:g.5462G>A
  • NC_000002.11:g.220283560G>A
  • NM_001927.3:c.376G>A
Protein change:
V126M
Links:
dbSNP: rs876657770
NCBI 1000 Genomes Browser:
rs876657770
Molecular consequence:
  • NM_001382708.1:c.376G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382709.1:c.376G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382710.1:c.376G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382711.1:c.376G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382712.1:c.376G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382713.1:c.376G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001927.4:c.376G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001430870Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
no assertion criteria provided
Likely pathogenic
(Apr 2, 2020) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, SCV001430870.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

This variant has been identified as part of our research program. Refer to the 'condition' field for the phenotype of the proband identified with this variant. For further information please feel free to contact us.

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

Last Updated: Apr 6, 2024