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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

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

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