NM_005476.7(GNE):c.1294A>T (p.Lys432Ter) AND GNE myopathy

Clinical significance:Likely pathogenic (Last evaluated: Dec 22, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_005476.7(GNE):c.1294A>T (p.Lys432Ter)]

NM_005476.7(GNE):c.1294A>T (p.Lys432Ter)

GNE:glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_005476.7(GNE):c.1294A>T (p.Lys432Ter)
  • NC_000009.12:g.36223490T>A
  • NG_008246.1:g.58555A>T
  • NM_001128227.3:c.1387A>T
  • NM_001190383.3:c.1294A>T
  • NM_001190384.3:c.964A>T
  • NM_001190388.2:c.1117A>T
  • NM_001374797.1:c.1141A>T
  • NM_001374798.1:c.1117A>T
  • NM_005476.7:c.1294A>TMANE SELECT
  • NP_001121699.1:p.Lys463Ter
  • NP_001177312.1:p.Lys432Ter
  • NP_001177313.1:p.Lys322Ter
  • NP_001177317.2:p.Lys373Ter
  • NP_001361726.1:p.Lys381Ter
  • NP_001361727.1:p.Lys373Ter
  • NP_005467.1:p.Lys432Ter
  • LRG_1197t1:c.1387A>T
  • LRG_1197t2:c.1294A>T
  • LRG_1197:g.58555A>T
  • LRG_1197p1:p.Lys463Ter
  • LRG_1197p2:p.Lys432Ter
  • NC_000009.11:g.36223487T>A
Protein change:
Molecular consequence:
  • NM_001128227.3:c.1387A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001190383.3:c.1294A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001190384.3:c.964A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001190388.2:c.1117A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374797.1:c.1141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374798.1:c.1117A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005476.7:c.1294A>T - nonsense - [Sequence Ontology: SO:0001587]


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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001442451Myriad Women's Health, Inc.no assertion criteria provided
Likely pathogenic
(Dec 22, 2019)
unknownclinical testing

Citation Link


NM_001128227.2(GNE):c.1387A>T(K463*) is expected to be pathogenic in the context of GNE myopathy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in GNE, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.


Summary from all submissions

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

Details of each submission

From Myriad Women's Health, Inc., SCV001442451.1

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

Last Updated: Oct 7, 2021

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