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NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) AND GNE myopathy

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Mar 26, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000671522.4

Allele description [Variation Report for NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)]

NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)

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.1583T>G (p.Phe528Cys)
HGVS:
  • NC_000009.12:g.36222827A>C
  • NG_008246.1:g.59218T>G
  • NM_001128227.3:c.1676T>G
  • NM_001190383.3:c.1411+546T>G
  • NM_001190384.3:c.1253T>G
  • NM_001190388.2:c.1406T>G
  • NM_001374797.1:c.1430T>G
  • NM_001374798.1:c.1406T>G
  • NM_005476.7:c.1583T>GMANE SELECT
  • NP_001121699.1:p.Phe559Cys
  • NP_001177313.1:p.Phe418Cys
  • NP_001177317.2:p.Phe469Cys
  • NP_001361726.1:p.Phe477Cys
  • NP_001361727.1:p.Phe469Cys
  • NP_005467.1:p.Phe528Cys
  • LRG_1197t1:c.1676T>G
  • LRG_1197t2:c.1583T>G
  • LRG_1197:g.59218T>G
  • LRG_1197p1:p.Phe559Cys
  • LRG_1197p2:p.Phe528Cys
  • NC_000009.11:g.36222824A>C
  • NM_001128227.2:c.1676T>G
Protein change:
F418C
Links:
dbSNP: rs986773986
NCBI 1000 Genomes Browser:
rs986773986
Molecular consequence:
  • NM_001190383.3:c.1411+546T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128227.3:c.1676T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190384.3:c.1253T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190388.2:c.1406T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374797.1:c.1430T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374798.1:c.1406T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005476.7:c.1583T>G - 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
SCV000796506Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Dec 27, 2017) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV004199390Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 26, 2024) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, Bushby K, Castellan C, Felice K, Mendell J, Merlini L, Shilling C, Wirguin I, Argov Z, Mitrani-Rosenbaum S.

Hum Mutat. 2003 Jan;21(1):99.

PubMed [citation]
PMID:
12497639

Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.

Penner J, Mantey LR, Elgavish S, Ghaderi D, Cirak S, Berger M, Krause S, Lucka L, Voit T, Mitrani-Rosenbaum S, Hinderlich S.

Biochemistry. 2006 Mar 7;45(9):2968-77.

PubMed [citation]
PMID:
16503651
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000796506.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV004199390.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024