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NM_018714.3(COG1):c.333G>A (p.Gln111=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 25, 2012
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:
RCV000081966.7

Allele description [Variation Report for NM_018714.3(COG1):c.333G>A (p.Gln111=)]

NM_018714.3(COG1):c.333G>A (p.Gln111=)

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.333G>A (p.Gln111=)
HGVS:
  • NC_000017.11:g.73196524G>A
  • NG_008971.1:g.8491G>A
  • NM_018714.3:c.333G>AMANE SELECT
  • NP_061184.1:p.Gln111=
  • NC_000017.10:g.71192663G>A
  • NM_018714.2:c.333G>A
  • NP_061184.1:p.(=)
Links:
dbSNP: rs1052706
NCBI 1000 Genomes Browser:
rs1052706
Molecular consequence:
  • NM_018714.3:c.333G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
33

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000113901Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Jul 25, 2012) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown33not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000113901.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided33not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided33not providednot providednot provided

Last Updated: Sep 29, 2024