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NM_025114.3(CEP290):c.5055G>A (p.Ala1685=)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 19, 2018)
Last evaluated:
Jun 14, 2016
Accession:
VCV000166834.1
Variation ID:
166834
Description:
single nucleotide variant
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NM_025114.3(CEP290):c.5055G>A (p.Ala1685=)

Allele ID
177572
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q21.32
Genomic location
12: 88080353 (GRCh38) GRCh38 UCSC
12: 88474130 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.88474130C>T
NC_000012.12:g.88080353C>T
NM_025114.3:c.5055G>A NP_079390.3:p.Ala1685= synonymous
NG_008417.1:g.66864G>A
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00010
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00012
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Links
dbSNP: rs73192874
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 29, 2014 RCV000152976.3
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000291841.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000344957.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000346891.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000399776.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000400108.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CEP290 - - GRCh38
GRCh37
448 483

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Leber Congenital Amaurosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000381407.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000381406.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jan 29, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000202416.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Joubert Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000381410.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Meckel Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000381409.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Senior-Loken Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000381408.2
Submitted: (Oct 18, 2016)
Evidence details

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CEP290 - - - -

Record last updated Jun 13, 2019