NC_000009.12:g.(?_128522658)_(128527535_?)del AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 16, 2022
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:: RCV001032922.4

Allele description

NC_000009.12:g.(?_128522658)_(128527535_?)del

Gene:

GLE1:GLE1 RNA export mediator [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.11

Genomic location:

Chr9: 131284937 - 131289814 (on Assembly GRCh37)

Preferred name:

NC_000009.12:g.(?_128522658)_(128527535_?)del

HGVS:

NC_000009.12:g.(?_128522658)_(128527535_?)del
NC_000009.11:g.(?_131284937)_(131289814_?)del

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001196229	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 16, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18204449, 24243016, 27684565, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001196229

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 16, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L.

Nat Genet. 2008 Feb;40(2):155-7. doi: 10.1038/ng.2007.65. Epub 2008 Jan 20.

PubMed [citation]

PMID:: 18204449
PMCID:: PMC2684619

Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease.

Folkmann AW, Collier SE, Zhan X, Aditi, Ohi MD, Wente SR.

Cell. 2013 Oct 24;155(3):582-93. doi: 10.1016/j.cell.2013.09.023. Epub 2013 Oct 24.

PubMed [citation]

PMID:: 24243016
PMCID:: PMC3855398

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001196229.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant is a gross deletion of the genomic region encompassing exon(s) 4-9 of the GLE1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in GLE1 are known to be pathogenic (PMID: 18204449, 24243016, 27684565). This variant has not been reported in the literature in individuals affected with GLE1-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	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: Feb 18, 2023

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