NM_005476.7(GNE):c.1412-4G>A AND GNE myopathy

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jun 21, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001169667.6

Allele description [Variation Report for NM_005476.7(GNE):c.1412-4G>A]

NM_005476.7(GNE):c.1412-4G>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.1412-4G>A

HGVS:

NC_000009.12:g.36223002C>T
NG_008246.1:g.59043G>A
NM_001128227.3:c.1505-4G>A
NM_001190383.3:c.1411+371G>A
NM_001190384.3:c.1082-4G>A
NM_001190388.2:c.1235-4G>A
NM_001374797.1:c.1259-4G>A
NM_001374798.1:c.1235-4G>A
NM_005476.7:c.1412-4G>AMANE SELECT
LRG_1197t1:c.1505-4G>A
LRG_1197t2:c.1412-4G>A
LRG_1197:g.59043G>A
NC_000009.11:g.36222999C>T
NM_001128227.2:c.1505-4G>A
NM_005476.5:c.1412-4G>A

Links:

dbSNP: rs146067766

NCBI 1000 Genomes Browser:

rs146067766

Molecular consequence:

NM_001128227.3:c.1505-4G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001190383.3:c.1411+371G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001190384.3:c.1082-4G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001190388.2:c.1235-4G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001374797.1:c.1259-4G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001374798.1:c.1235-4G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_005476.7:c.1412-4G>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001332427	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Jun 21, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24027297, 27919547 Citation Link,
SCV002075644	Natera, Inc.	no assertion criteria provided	Uncertain significance (Feb 11, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001332427

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Jun 21, 2017)

germline

clinical testing

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

Citation Link,

SCV002075644

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Feb 11, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Citations

PubMed

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).

Cho A, Hayashi YK, Monma K, Oya Y, Noguchi S, Nonaka I, Nishino I.

J Neurol Neurosurg Psychiatry. 2014 Aug;85(8):914-7. doi: 10.1136/jnnp-2013-305587. Epub 2013 Sep 11.

PubMed [citation]

PMID:: 24027297

Granuloma formation in a patient with GNE myopathy: A case report.

Nakamura K, Hamaguchi T, Sakai K, Noto D, Ono K, Hayashi Y, Nishino I, Yamada M.

Neuromuscul Disord. 2017 Feb;27(2):183-184. doi: 10.1016/j.nmd.2016.11.007. Epub 2016 Nov 18.

PubMed [citation]

PMID:: 27919547

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001332427.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

From Natera, Inc., SCV002075644.1

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

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine