U.S. flag

An official website of the United States government

NM_001927.4(DES):c.-6G>A AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 1, 2021
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:
RCV001293589.8

Allele description [Variation Report for NM_001927.4(DES):c.-6G>A]

NM_001927.4(DES):c.-6G>A

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.-6G>A
HGVS:
  • NC_000002.12:g.219418457G>A
  • NG_008043.1:g.5081G>A
  • NG_046330.1:g.18849G>A
  • NM_001927.4:c.-6G>AMANE SELECT
  • LRG_380t1:c.-6G>A
  • LRG_380:g.5081G>A
  • NC_000002.11:g.220283179G>A
  • NM_001927.3:c.-6G>A
Links:
dbSNP: rs774967446
NCBI 1000 Genomes Browser:
rs774967446
Molecular consequence:
  • NM_001927.4:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001482204Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 1, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001482204.1

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

Description

Variant summary: DES c.-6G>A is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 2.9e-05 in 206062 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.-6G>A in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Nov 10, 2024