NM_005476.7(GNE):c.1485G>A (p.Trp495Ter) AND GNE myopathy

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jun 22, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000669224.2

Allele description [Variation Report for NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)]

NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)

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.1485G>A (p.Trp495Ter)

HGVS:

NC_000009.12:g.36222925C>T
NG_008246.1:g.59120G>A
NM_001128227.3:c.1578G>A
NM_001190383.3:c.1411+448G>A
NM_001190384.3:c.1155G>A
NM_001190388.2:c.1308G>A
NM_001374797.1:c.1332G>A
NM_001374798.1:c.1308G>A
NM_005476.7:c.1485G>AMANE SELECT
NP_001121699.1:p.Trp526Ter
NP_001177313.1:p.Trp385Ter
NP_001177317.2:p.Trp436Ter
NP_001361726.1:p.Trp444Ter
NP_001361727.1:p.Trp436Ter
NP_005467.1:p.Trp495Ter
LRG_1197t1:c.1578G>A
LRG_1197t2:c.1485G>A
LRG_1197:g.59120G>A
LRG_1197p1:p.Trp526Ter
LRG_1197p2:p.Trp495Ter
NC_000009.11:g.36222922C>T
NM_001128227.2:c.1578G>A

Protein change:

W385*

Links:

dbSNP: rs1212623980

NCBI 1000 Genomes Browser:

rs1212623980

Molecular consequence:

NM_001190383.3:c.1411+448G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001128227.3:c.1578G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001190384.3:c.1155G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001190388.2:c.1308G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001374797.1:c.1332G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001374798.1:c.1308G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_005476.7:c.1485G>A - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000793955	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Sep 5, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV004191641	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 22, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000793955

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Sep 5, 2017)

unknown

clinical testing

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

Citation Link,

SCV004191641

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 22, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.

No D, Valles-Ayoub Y, Carbajo R, Khokher Z, Sandoval L, Stein B, Tarnopolsky MA, Mozaffar T, Darvish B, Pietruszka M, Darvish D.

Genet Test Mol Biomarkers. 2013 May;17(5):376-82. doi: 10.1089/gtmb.2012.0408. Epub 2013 Feb 25.

PubMed [citation]

PMID:: 23437777

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Counsyl, SCV000793955.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004191641.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

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