NM_005476.7(GNE):c.1412-4G>A AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Jun 25, 2021
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:: RCV000593407.8

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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magnesium transporter NIPA2 isoform a [Homo sapiens]
magnesium transporter NIPA2 isoform a [Homo sapiens]
gi|57013274|ref|NP_112184.4|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000706243	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Mar 23, 2017)	germline	clinical testing	Citation Link,
SCV002043962	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 25, 2021)	germline	clinical testing	Citation Link,
SCV003815083	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 8, 2021)	germline	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

SCV000706243

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Mar 23, 2017)

germline

clinical testing

Citation Link,

SCV002043962

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 25, 2021)

germline

clinical testing

Citation Link,

SCV003815083

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 8, 2021)

germline

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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Eurofins Ntd Llc (ga), SCV000706243.2

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

From GeneDx, SCV002043962.2

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

Description

In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 27535533, 27919547, 24027297)

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

From Revvity Omics, Revvity, SCV003815083.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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