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NM_018714.3(COG1):c.542C>T (p.Ala181Val) AND COG1 congenital disorder of glycosylation

Clinical significance:Uncertain significance (Last evaluated: Jan 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

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Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000399572.5

Allele description [Variation Report for NM_018714.3(COG1):c.542C>T (p.Ala181Val)]

NM_018714.3(COG1):c.542C>T (p.Ala181Val)

Gene:
COG1:component of oligomeric golgi complex 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_018714.3(COG1):c.542C>T (p.Ala181Val)
HGVS:
  • NC_000017.11:g.73196733C>T
  • NG_008971.1:g.8700C>T
  • NM_018714.3:c.542C>TMANE SELECT
  • NP_061184.1:p.Ala181Val
  • NC_000017.10:g.71192872C>T
  • NM_018714.2:c.542C>T
Protein change:
A181V
Links:
dbSNP: rs534708439
NCBI 1000 Genomes Browser:
rs534708439
Molecular consequence:
  • NM_018714.3:c.542C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
COG1 congenital disorder of glycosylation (CDG2G)
Synonyms:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG IIg; CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012637; MedGen: C2931011; Orphanet: 263508; OMIM: 611209

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000406277Illumina Laboratory Services,Illuminacriteria provided, single submitter
Uncertain significance
(Jan 13, 2018) 		germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services,Illumina, SCV000406277.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 9, 2023