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NM_020751.3(COG6):c.154-2A>G AND COG6-congenital disorder of glycosylation

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 28, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000989102.1

Allele description [Variation Report for NM_020751.3(COG6):c.154-2A>G]

NM_020751.3(COG6):c.154-2A>G

Gene:
COG6:component of oligomeric golgi complex 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.11
Genomic location:
Preferred name:
NM_020751.3(COG6):c.154-2A>G
HGVS:
  • NC_000013.11:g.39659362A>G
  • NG_028352.1:g.8736A>G
  • NM_001145079.2:c.154-2A>G
  • NM_020751.3:c.154-2A>GMANE SELECT
  • NC_000013.10:g.40233499A>G
Links:
dbSNP: rs1593402927
NCBI 1000 Genomes Browser:
rs1593402927
Molecular consequence:
  • NM_001145079.2:c.154-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_020751.3:c.154-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
COG6-congenital disorder of glycosylation
Synonyms:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG IIl; COG6-CGD; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013810; MedGen: C3553230; OMIM: 614576

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001139299Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001139299.1

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

Last Updated: May 16, 2025