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NM_018714.3(COG1):c.87G>C (p.Glu29Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
May 31, 2020
Most recent Submission:
May 31, 2020
Last evaluated:
Jan 13, 2018
Accession:
VCV000324956.3
Variation ID:
324956
Description:
single nucleotide variant
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NM_018714.3(COG1):c.87G>C (p.Glu29Asp)

Allele ID
329735
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.1
Genomic location
17: 73193156 (GRCh38) GRCh38 UCSC
17: 71189295 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_018714.3:c.87G>C MANE Select NP_061184.1:p.Glu29Asp missense
NC_000017.11:g.73193156G>C
NC_000017.10:g.71189295G>C
NG_008971.1:g.5123G>C
Protein change
E29D
Other names
-
Canonical SPDI
NC_000017.11:73193155:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00012
Exome Aggregation Consortium (ExAC) 0.00017
Trans-Omics for Precision Medicine (TOPMed) 0.00014
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
The Genome Aggregation Database (gnomAD), exomes 0.00013
Links
ClinGen: CA8739887
dbSNP: rs375609831
VarSome
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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 13, 2018 RCV000266933.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COG1 - - GRCh38
GRCh37
238 275

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
COG1 congenital disorder of glycosylation
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000406269.3
First in ClinVar: Dec 06, 2016
Last updated: May 31, 2020
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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

Text-mined citations for rs375609831...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 25, 2022