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NM_001003722.2(GLE1):c.116G>A (p.Cys39Tyr) AND Lethal congenital contractural syndrome Finnish type

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 4, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001830914.1

Allele description [Variation Report for NM_001003722.2(GLE1):c.116G>A (p.Cys39Tyr)]

NM_001003722.2(GLE1):c.116G>A (p.Cys39Tyr)

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.116G>A (p.Cys39Tyr)
HGVS:
  • NC_000009.12:g.128508892G>A
  • NG_012073.1:g.9201G>A
  • NM_001003722.2:c.116G>AMANE SELECT
  • NM_001499.2:c.116G>A
  • NP_001003722.1:p.Cys39Tyr
  • NP_001490.1:p.Cys39Tyr
  • LRG_484t1:c.116G>A
  • LRG_484t2:c.116G>A
  • LRG_484:g.9201G>A
  • LRG_484p2:p.Cys39Tyr
  • NC_000009.11:g.131271171G>A
  • NM_001003722.1:c.116G>A
Protein change:
C39Y
Links:
dbSNP: rs138871311
NCBI 1000 Genomes Browser:
rs138871311
Molecular consequence:
  • NM_001003722.2:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001499.2:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lethal congenital contractural syndrome Finnish type
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002082195Natera, Inc.
no assertion criteria provided
Likely benign
(Feb 4, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002082195.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024