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NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 20, 2024
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:
RCV004725193.1

Allele description [Variation Report for NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu)]

NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu)

Gene:
GLE1:GLE1 RNA export mediator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu)
HGVS:
  • NC_000009.12:g.128504859C>G
  • NG_012073.1:g.5168C>G
  • NM_001003722.2:c.54C>GMANE SELECT
  • NM_001499.2:c.54C>G
  • NP_001003722.1:p.Asp18Glu
  • NP_001003722.1:p.Asp18Glu
  • NP_001490.1:p.Asp18Glu
  • LRG_484t1:c.54C>G
  • LRG_484t2:c.54C>G
  • LRG_484:g.5168C>G
  • LRG_484p1:p.Asp18Glu
  • LRG_484p2:p.Asp18Glu
  • NC_000009.11:g.131267138C>G
  • NM_001003722.1:c.54C>G
Protein change:
D18E
Links:
dbSNP: rs549769200
NCBI 1000 Genomes Browser:
rs549769200
Molecular consequence:
  • NM_001003722.2:c.54C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001499.2:c.54C>G - missense variant - [Sequence Ontology: SO:0001583]

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
Name:
Lethal congenital contracture syndrome 1 (LCCS1)
Synonyms:
Multiple contracture syndrome, Finnish type; Lethal autosomal recessive syndrome of multiple congenital contractures
Identifiers:
MONDO: MONDO:0009670; MedGen: C1854664; Orphanet: 1486; OMIM: 253310

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0053288803billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Sep 20, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 3billion, SCV005328880.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024