NM_018714.3(COG1):c.2666G>A (p.Arg889Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 11, 2017)
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:: RCV000514562.2

Allele description [Variation Report for NM_018714.3(COG1):c.2666G>A (p.Arg889Gln)]

NM_018714.3(COG1):c.2666G>A (p.Arg889Gln)

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.2666G>A (p.Arg889Gln)

HGVS:

NC_000017.11:g.73206754G>A
NG_008971.1:g.18721G>A
NM_018714.3:c.2666G>AMANE SELECT
NP_061184.1:p.Arg889Gln
NC_000017.10:g.71202893G>A
NM_018714.2:c.2666G>A

Protein change:

R889Q

Links:

dbSNP: rs148773959

NCBI 1000 Genomes Browser:

rs148773959

Molecular consequence:

NM_018714.3:c.2666G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000610641	Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	criteria provided, single submitter ACMG Guidelines, 2015	Uncertain significance (Sep 11, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000610641

Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

criteria provided, single submitter

ACMG Guidelines, 2015

Uncertain significance
(Sep 11, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000610641.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	0.000069	not provided	not provided

Last Updated: Apr 9, 2023

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