NM_001003722.2(GLE1):c.2029-5A>G AND Lethal arthrogryposis-anterior horn cell disease syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 4, 2021
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:: RCV003232365.8

Allele description [Variation Report for NM_001003722.2(GLE1):c.2029-5A>G]

NM_001003722.2(GLE1):c.2029-5A>G

Genes:

GLE1:GLE1 RNA export mediator [Gene - OMIM - HGNC]
LOC101929270:uncharacterized LOC101929270 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001003722.2(GLE1):c.2029-5A>G

HGVS:

NC_000009.12:g.128541097A>G
NG_012073.1:g.41406A>G
NM_001003722.2:c.2029-5A>GMANE SELECT
LRG_484:g.41406A>G
NC_000009.11:g.131303376A>G

Links:

dbSNP: rs994582379

NCBI 1000 Genomes Browser:

rs994582379

Molecular consequence:

NM_001003722.2:c.2029-5A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Lethal arthrogryposis-anterior horn cell disease syndrome (CAAHD)
Synonyms:: Lethal arthrogryposis with anterior horn cell disease; CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE
Identifiers:: MONDO: MONDO:0012750; MedGen: C5193016; OMIM: 611890

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002512265	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 4, 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

SCV002512265

Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 4, 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

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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512265.2

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

Description

ACMG classification criteria: PM2 moderate

#	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

Last Updated: Nov 3, 2024

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