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NM_005476.7(GNE):c.694del (p.Met232fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 1, 2021)
Last evaluated:
Jun 18, 2019
Accession:
VCV000524125.4
Variation ID:
524125
Description:
1bp deletion
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NM_005476.7(GNE):c.694del (p.Met232fs)

Allele ID
514593
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
9p13.3
Genomic location
9: 36236907 (GRCh38) GRCh38 UCSC
9: 36236904 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001128227.3:c.787delA
NC_000009.11:g.36236908del
NC_000009.12:g.36236911del
... more HGVS
Protein change
M232fs, M263fs, M173fs
Other names
-
Canonical SPDI
NC_000009.12:36236906:TTTTT:TTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658797203
dbSNP: rs1554661549
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 criteria provided, single submitter Jun 18, 2019 RCV000627621.2
Likely pathogenic 1 no assertion criteria provided Sep 16, 2020 RCV001274365.1
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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
(Jun 18, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000748621.3
Submitted: (Oct 01, 2021)
Evidence details
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Likely pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Nonaka myopathy
Allele origin: germline
Natera, Inc.
Accession: SCV001458439.1
Submitted: (Dec 28, 2020)
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.

Text-mined citations for rs1554661549...

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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 06, 2021