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NM_005476.7(GNE):c.1411+1del AND GNE myopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 29, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000411440.2

Allele description [Variation Report for NM_005476.7(GNE):c.1411+1del]

NM_005476.7(GNE):c.1411+1del

Gene:
GNE:glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_005476.7(GNE):c.1411+1del
HGVS:
  • NC_000009.12:g.36223373del
  • NG_008246.1:g.58673del
  • NM_001128227.3:c.1504+1del
  • NM_001190383.3:c.1411+1del
  • NM_001190384.3:c.1081+1del
  • NM_001190388.2:c.1234+1del
  • NM_001374797.1:c.1258+1del
  • NM_001374798.1:c.1234+1del
  • NM_005476.7:c.1411+1delMANE SELECT
  • LRG_1197t1:c.1504+1del
  • LRG_1197t2:c.1411+1del
  • LRG_1197:g.58673del
  • NC_000009.11:g.36223370del
  • NM_001128227.2:c.1504+1delG
Links:
dbSNP: rs1057516597
NCBI 1000 Genomes Browser:
rs1057516597
Molecular consequence:
  • NM_001128227.3:c.1504+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001190383.3:c.1411+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001190384.3:c.1081+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001190388.2:c.1234+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374797.1:c.1258+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374798.1:c.1234+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_005476.7:c.1411+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
GNE myopathy (NM)
Synonyms:
Nonaka myopathy; Nonaka distal myopathy; INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011603; MedGen: C1853926; Orphanet: 602; OMIM: 605820

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000485922Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Feb 29, 2016) 		unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000485922.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023