Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001499.2(GLE1):c.-81C>T

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000365128.1
Variation ID:
365128
Description:
single nucleotide variant
Help

NM_001499.2(GLE1):c.-81C>T

Allele ID
316683
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 128504725 (GRCh38) GRCh38 UCSC
9: 131267004 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.131267004C>T
NC_000009.12:g.128504725C>T
NM_001499.2:c.-81C>T 5 prime UTR
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00137
1000 Genomes Project 0.00040
Links
dbSNP: rs56214514
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000261038.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000297930.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GLE1 - - GRCh38
GRCh37
56 94

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Lethal Congenital Contracture Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000477415.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Lethal Arthrogryposis With Anterior Horn Cell Disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000477416.2
Submitted: (Oct 18, 2016)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Aug 30, 2019