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NM_032382.5(COG8):c.973C>T (p.Gln325Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 14, 2017
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:
RCV000579314.1

Allele description [Variation Report for NM_032382.5(COG8):c.973C>T (p.Gln325Ter)]

NM_032382.5(COG8):c.973C>T (p.Gln325Ter)

Gene:
COG8:component of oligomeric golgi complex 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_032382.5(COG8):c.973C>T (p.Gln325Ter)
HGVS:
  • NC_000016.10:g.69334961G>A
  • NG_009013.1:g.9663C>T
  • NG_033043.1:g.635C>T
  • NM_001374871.1:c.973C>T
  • NM_001379261.1:c.973C>T
  • NM_001379262.1:c.973C>T
  • NM_001379263.1:c.973C>T
  • NM_001379264.1:c.973C>T
  • NM_001379265.1:c.973C>T
  • NM_001379266.1:c.973C>T
  • NM_032382.5:c.973C>TMANE SELECT
  • NP_001361800.1:p.Gln325Ter
  • NP_001366190.1:p.Gln325Ter
  • NP_001366191.1:p.Gln325Ter
  • NP_001366192.1:p.Gln325Ter
  • NP_001366193.1:p.Gln325Ter
  • NP_001366194.1:p.Gln325Ter
  • NP_001366195.1:p.Gln325Ter
  • NP_115758.3:p.Gln325Ter
  • NP_115758.3:p.Gln325Ter
  • NC_000016.9:g.69368864G>A
  • NM_032382.4:c.973C>T
Protein change:
Q325*
Links:
dbSNP: rs779899559
NCBI 1000 Genomes Browser:
rs779899559
Molecular consequence:
  • NM_001374871.1:c.973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379261.1:c.973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379262.1:c.973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379263.1:c.973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379264.1:c.973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379265.1:c.973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379266.1:c.973C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_032382.5:c.973C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000681222GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Dec 14, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000681222.2

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

Description

The Q325X variant in the COG8 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q325X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q325X as a likely pathogenic variant.

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

Last Updated: Apr 23, 2022