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NM_005476.7(GNE):c.1075A>T (p.Lys359Ter)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 30, 2020)
Last evaluated:
Dec 26, 2019
Accession:
VCV000983569.1
Variation ID:
983569
Description:
single nucleotide variant
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NM_005476.7(GNE):c.1075A>T (p.Lys359Ter)

Allele ID
972038
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p13.3
Genomic location
9: 36227454 (GRCh38) GRCh38 UCSC
9: 36227451 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.36227451T>A
NC_000009.12:g.36227454T>A
NG_008246.1:g.54591A>T
... more HGVS
Protein change
K249*, K300*, K308*, K359*, K390*
Other names
-
Canonical SPDI
NC_000009.12:36227453:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Dec 26, 2019 RCV001263568.1
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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
(Dec 26, 2019)
no assertion criteria provided
Method: clinical testing
GNE myopathy
Allele origin: unknown
Myriad Women's Health, Inc.
Accession: SCV001441659.1
Submitted: (Oct 30, 2020)
Comment:
NM_001128227.2(GNE):c.1168A>T(K390*) is expected to be pathogenic in the context of GNE myopathy. This variant is predicted to lead to an abnormal or absent protein product … (more)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021