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NM_001927.4(DES):c.243C>T (p.Ser81=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 23, 2021)
Last evaluated:
Feb 2, 2021
Accession:
VCV000179286.7
Variation ID:
179286
Description:
single nucleotide variant
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NM_001927.4(DES):c.243C>T (p.Ser81=)

Allele ID
173492
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 219418705 (GRCh38) GRCh38 UCSC
2: 220283427 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.220283427C>T
NC_000002.12:g.219418705C>T
NG_008043.1:g.5329C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:219418704:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00019
Trans-Omics for Precision Medicine (TOPMed) 0.00035
The Genome Aggregation Database (gnomAD) 0.00015
Trans-Omics for Precision Medicine (TOPMed) 0.00037
Links
ClinGen: CA184122
dbSNP: rs201594392
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 3 criteria provided, multiple submitters, no conflicts Jun 26, 2017 RCV000156075.4
Likely benign 1 criteria provided, single submitter Nov 14, 2020 RCV000471679.6
Benign 1 criteria provided, single submitter Dec 14, 2016 RCV000620327.1
Likely benign 1 criteria provided, single submitter Feb 2, 2021 RCV001697118.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DES - - GRCh38
GRCh37
589 627

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 12, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000205788.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ser81Ser in exon 1 of DES: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue … (more)
Likely benign
(Jun 26, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613088.1
Submitted: (Aug 17, 2017)
Evidence details
Likely benign
(Aug 11, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000332849.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 14, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000737004.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Likely benign
(Nov 14, 2020)
criteria provided, single submitter
Method: clinical testing
Muscular dystrophy, limb-girdle, type 2R
Myofibrillar myopathy 1
Allele origin: germline
Invitae
Accession: SCV000562346.6
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Feb 02, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000716761.2
Submitted: (Sep 23, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DES - - - -

Text-mined citations for rs201594392...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021