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NM_007357.3(COG2):c.1855C>T (p.Gln619Ter) AND Congenital disorder of glycosylation, type IIq

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 24, 2020
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:
RCV001291776.1

Allele description [Variation Report for NM_007357.3(COG2):c.1855C>T (p.Gln619Ter)]

NM_007357.3(COG2):c.1855C>T (p.Gln619Ter)

Gene:
COG2:component of oligomeric golgi complex 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.2
Genomic location:
Preferred name:
NM_007357.3(COG2):c.1855C>T (p.Gln619Ter)
HGVS:
  • NC_000001.11:g.230690074C>T
  • NM_001145036.2:c.1852C>T
  • NM_007357.3:c.1855C>TMANE SELECT
  • NP_001138508.1:p.Gln618Ter
  • NP_031383.1:p.Gln619Ter
  • NC_000001.10:g.230825820C>T
Protein change:
Q618*
Links:
dbSNP: rs1662986310
NCBI 1000 Genomes Browser:
rs1662986310
Molecular consequence:
  • NM_001145036.2:c.1852C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007357.3:c.1855C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Congenital disorder of glycosylation, type IIq
Synonyms:
CDG IIq
Identifiers:
MONDO: MONDO:0054559; MedGen: C4479353; OMIM: 617395

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001480393New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Likely pathogenic
(Apr 24, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001480393.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022