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NM_005476.7(GNE):c.1429C>T (p.Arg477Cys) AND GNE myopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 9, 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:
RCV001827498.1

Allele description [Variation Report for NM_005476.7(GNE):c.1429C>T (p.Arg477Cys)]

NM_005476.7(GNE):c.1429C>T (p.Arg477Cys)

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.1429C>T (p.Arg477Cys)
HGVS:
  • NC_000009.12:g.36222981G>A
  • NG_008246.1:g.59064C>T
  • NM_001128227.3:c.1522C>T
  • NM_001190383.3:c.1411+392C>T
  • NM_001190384.3:c.1099C>T
  • NM_001190388.2:c.1252C>T
  • NM_001374797.1:c.1276C>T
  • NM_001374798.1:c.1252C>T
  • NM_005476.7:c.1429C>TMANE SELECT
  • NP_001121699.1:p.Arg508Cys
  • NP_001177313.1:p.Arg367Cys
  • NP_001177317.2:p.Arg418Cys
  • NP_001361726.1:p.Arg426Cys
  • NP_001361727.1:p.Arg418Cys
  • NP_005467.1:p.Arg477Cys
  • LRG_1197t1:c.1522C>T
  • LRG_1197t2:c.1429C>T
  • LRG_1197:g.59064C>T
  • LRG_1197p1:p.Arg508Cys
  • LRG_1197p2:p.Arg477Cys
  • NC_000009.11:g.36222978G>A
  • NM_001128227.2:c.1522C>T
Protein change:
R367C
Links:
dbSNP: rs551854437
NCBI 1000 Genomes Browser:
rs551854437
Molecular consequence:
  • NM_001190383.3:c.1411+392C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128227.3:c.1522C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190384.3:c.1099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190388.2:c.1252C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374797.1:c.1276C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374798.1:c.1252C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005476.7:c.1429C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002075642Natera, Inc.
no assertion criteria provided
Uncertain significance
(Dec 9, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002075642.1

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

Last Updated: Oct 20, 2024