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NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 5, 2014
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:
RCV000210650.2

Allele description [Variation Report for NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr)]

NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr)

Gene:
COQ8A:coenzyme Q8A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.13
Genomic location:
Preferred name:
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr)
HGVS:
  • NC_000001.11:g.226982969G>A
  • NG_012825.2:g.90434G>A
  • NM_020247.5:c.1015G>AMANE SELECT
  • NP_064632.2:p.Ala339Thr
  • LRG_1092t1:c.1015G>A
  • LRG_1092:g.90434G>A
  • LRG_1092p1:p.Ala339Thr
  • NC_000001.10:g.227170670G>A
  • NM_020247.4:c.1015G>A
Protein change:
A339T
Links:
dbSNP: rs755933881
NCBI 1000 Genomes Browser:
rs755933881
Molecular consequence:
  • NM_020247.5:c.1015G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000262867Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Likely pathogenic
(Feb 5, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000262867.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024