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NM_018714.3(COG1):c.2619+11T>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Uncertain significance(1); Benign(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2
First in ClinVar:
Dec 6, 2016
Most recent Submission:
Apr 8, 2022
Last evaluated:
Nov 10, 2021
Accession:
VCV000324973.6
Variation ID:
324973
Description:
single nucleotide variant
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NM_018714.3(COG1):c.2619+11T>A

Allele ID
347143
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.1
Genomic location
17: 73206273 (GRCh38) GRCh38 UCSC
17: 71202412 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_018714.3:c.2619+11T>A MANE Select
NC_000017.11:g.73206273T>A
NC_000017.10:g.71202412T>A
NG_008971.1:g.18240T>A
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:73206272:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00014
The Genome Aggregation Database (gnomAD), exomes 0.00049
The Genome Aggregation Database (gnomAD) 0.00011
Trans-Omics for Precision Medicine (TOPMed) 0.00010
1000 Genomes Project 0.00100
The Genome Aggregation Database (gnomAD) 0.00032
Exome Aggregation Consortium (ExAC) 0.00048
Links
ClinGen: CA8740524
dbSNP: rs144115463
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 10, 2021 RCV000381356.6
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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 12, 2018)
criteria provided, single submitter
Method: clinical testing
COG1 congenital disorder of glycosylation
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000406294.3
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)
Benign
(Nov 10, 2021)
criteria provided, single submitter
Method: clinical testing
COG1 congenital disorder of glycosylation
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV002402567.1
First in ClinVar: Apr 08, 2022
Last updated: Apr 08, 2022

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 rs144115463...

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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 Aug 24, 2022