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NM_001927.4(DES):c.391C>A (p.Gln131Lys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 17, 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:
RCV003168845.2

Allele description [Variation Report for NM_001927.4(DES):c.391C>A (p.Gln131Lys)]

NM_001927.4(DES):c.391C>A (p.Gln131Lys)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.391C>A (p.Gln131Lys)
HGVS:
  • NC_000002.12:g.219418853C>A
  • NG_008043.1:g.5477C>A
  • NM_001927.4:c.391C>AMANE SELECT
  • NP_001918.3:p.Gln131Lys
  • LRG_380t1:c.391C>A
  • LRG_380:g.5477C>A
  • NC_000002.11:g.220283575C>A
  • NM_001927.3:c.391C>A
Protein change:
Q131K
Links:
dbSNP: rs771499260
NCBI 1000 Genomes Browser:
rs771499260
Molecular consequence:
  • NM_001927.4:c.391C>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
SCV003856704Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 17, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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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

The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly.

Brodehl A, Holler S, Gummert J, Milting H.

Cells. 2022 Dec 2;11(23). doi: 10.3390/cells11233906.

PubMed [citation]
PMID:
36497166
PMCID:
PMC9738904

Details of each submission

From Ambry Genetics, SCV003856704.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.Q131K variant (also known as c.391C>A), located in coding exon 1 of the DES gene, results from a C to A substitution at nucleotide position 391. The glutamine at codon 131 is replaced by lysine, an amino acid with similar properties. This variant has been detected in a hypertrophic cardiomyopathy cohort (Thomson KL et al. Genet Med, 2019 Jul;21:1576-1584). Functional studies from one group indicate this variant may not adversely impact filament formation in vitro (Brodehl A et al. Cells, 2022 Dec;11). 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