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NM_005476.7(GNE):c.165-8G>A AND GNE myopathy

Germline classification:
Affects (1 submission)
Last evaluated:
Feb 11, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000758258.3

Allele description [Variation Report for NM_005476.7(GNE):c.165-8G>A]

NM_005476.7(GNE):c.165-8G>A

Gene:
GNE:glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_005476.7(GNE):c.165-8G>A
HGVS:
  • NC_000009.12:g.36246490C>T
  • NG_008246.1:g.35555G>A
  • NM_001128227.3:c.258-8G>A
  • NM_001190383.3:c.165-8G>A
  • NM_001190384.3:c.-13-8G>A
  • NM_001190388.2:c.-13-8G>A
  • NM_001374797.1:c.165-8G>A
  • NM_001374798.1:c.-13-8G>A
  • NM_005476.7:c.165-8G>AMANE SELECT
  • LRG_1197t1:c.258-8G>A
  • LRG_1197t2:c.165-8G>A
  • LRG_1197:g.35555G>A
  • NC_000009.11:g.36246487C>T
Links:
dbSNP: rs918998080
NCBI 1000 Genomes Browser:
rs918998080
Molecular consequence:
  • NM_001128227.3:c.258-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001190383.3:c.165-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001190384.3:c.-13-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001190388.2:c.-13-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374797.1:c.165-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374798.1:c.-13-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005476.7:c.165-8G>A - intron variant - [Sequence Ontology: SO:0001627]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000882746Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
no assertion criteria provided
Affects
(Feb 11, 2019) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

Details of each submission

From Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, SCV000882746.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided

Description

The proband has another variant, NM_001128227.2: c.131G>C (p.Cys44Ser).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024