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NM_005476.7(GNE):c.4G>T (p.Glu2Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 20, 2020
Accession:
VCV000290631.5
Variation ID:
290631
Description:
single nucleotide variant
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NM_005476.7(GNE):c.4G>T (p.Glu2Ter)

Allele ID
274868
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p13.3
Genomic location
9: 36249352 (GRCh38) GRCh38 UCSC
9: 36249349 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.36249349C>A
NC_000009.12:g.36249352C>A
NM_005476.7:c.4G>T MANE Select NP_005467.1:p.Glu2Ter nonsense
... more HGVS
Protein change
E33*, E2*
Other names
-
Canonical SPDI
NC_000009.12:36249351:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA10606854
dbSNP: rs886044514
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Feb 16, 2016 RCV000596007.4
Pathogenic 1 criteria provided, single submitter Aug 23, 2016 RCV000790761.2
Pathogenic 1 criteria provided, single submitter Feb 20, 2020 RCV001386743.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GNE - - GRCh38
GRCh37
525 595

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 16, 2016)
criteria provided, single submitter
Method: clinical testing
GNE myopathy
Allele origin: unknown
Counsyl
Accession: SCV000485812.1
Submitted: (Nov 23, 2016)
Evidence details
Pathogenic
(Aug 23, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000701554.2
Submitted: (Jun 30, 2017)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Feb 20, 2020)
criteria provided, single submitter
Method: clinical testing
Sialuria
GNE myopathy
Allele origin: germline
Invitae
Accession: SCV001587091.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Glu33*) in the GNE gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Dec 04, 2018)
no assertion criteria provided
Method: clinical testing
GNE myopathy
(Autosomal recessive inheritance)
Allele origin: germline
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
Accession: SCV000863982.1
Submitted: (Jan 20, 2019)
Evidence details
Comment:
The observed variant c.2179G>A (p.V727M) is a known pathogenic variant found very commonly in Indian patients related to GNE Myopathy, has been observed in compound … (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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Title Author Journal Year Link
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy). Cho A Journal of neurology, neurosurgery, and psychiatry 2014 PMID: 24027297
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GNE - - - -

Text-mined citations for rs886044514...

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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 Aug 27, 2021