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NM_004371.4(COPA):c.3151C>G (p.Gln1051Glu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 21, 2023
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:
RCV003353264.2

Allele description [Variation Report for NM_004371.4(COPA):c.3151C>G (p.Gln1051Glu)]

NM_004371.4(COPA):c.3151C>G (p.Gln1051Glu)

Gene:
COPA:COPI coat complex subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.2
Genomic location:
Preferred name:
NM_004371.4(COPA):c.3151C>G (p.Gln1051Glu)
HGVS:
  • NC_000001.11:g.160291926G>C
  • NG_050927.1:g.56639C>G
  • NM_001098398.1:c.3178C>G
  • NM_001098398.2:c.3178C>G
  • NM_004371.4:c.3151C>GMANE SELECT
  • NP_001091868.1:p.Gln1060Glu
  • NP_004362.2:p.Gln1051Glu
  • LRG_1336t1:c.3151C>G
  • LRG_1336:g.56639C>G
  • LRG_1336p1:p.Gln1051Glu
  • NC_000001.10:g.160261716G>C
  • NM_004371.3:c.3151C>G
Protein change:
Q1051E
Links:
dbSNP: rs369330981
NCBI 1000 Genomes Browser:
rs369330981
Molecular consequence:
  • NM_001098398.2:c.3178C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004371.4:c.3151C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004057222Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 21, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004057222.2

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

Description

The c.3178C>G (p.Q1060E) alteration is located in exon 30 (coding exon 30) of the COPA gene. This alteration results from a C to G substitution at nucleotide position 3178, causing the glutamine (Q) at amino acid position 1060 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024