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NM_001927.4(DES):c.500A>G (p.Glu167Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 3, 2019)
Last evaluated:
Dec 3, 2018
Accession:
VCV000813988.1
Variation ID:
813988
Description:
single nucleotide variant
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NM_001927.4(DES):c.500A>G (p.Glu167Gly)

Allele ID
802131
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 219418962 (GRCh38) GRCh38 UCSC
2: 220283684 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.220283684A>G
NC_000002.12:g.219418962A>G
NG_008043.1:g.5586A>G
... more HGVS
Protein change
E167G
Other names
-
Canonical SPDI
NC_000002.12:219418961:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1575013470
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 3, 2018 RCV001004983.1
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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
569 607

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 03, 2018)
criteria provided, single submitter
Method: research
Myofibrillar myopathy 1
(Autosomal recessive inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001164530.1
Submitted: (Oct 03, 2019)
Evidence details
Comment:
The homozygous p.Glu167Gly variant in DES was identified by our study in one individual with limb-girdle muscular dystrophy (LGMD). This variant was absent from large … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1575013470...

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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 Oct 08, 2021