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NM_020247.5(COQ8A):c.1399-13G>A AND Autosomal recessive cerebellar ataxia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000292287.5

Allele description [Variation Report for NM_020247.5(COQ8A):c.1399-13G>A]

NM_020247.5(COQ8A):c.1399-13G>A

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.1399-13G>A
HGVS:
  • NC_000001.11:g.226984535G>A
  • NG_012825.2:g.92000G>A
  • NM_020247.5:c.1399-13G>AMANE SELECT
  • LRG_1092t1:c.1399-13G>A
  • LRG_1092:g.92000G>A
  • NC_000001.10:g.227172236G>A
  • NM_020247.4:c.1399-13G>A
Links:
dbSNP: rs73087649
NCBI 1000 Genomes Browser:
rs73087649
Molecular consequence:
  • NM_020247.5:c.1399-13G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Autosomal recessive cerebellar ataxia
Synonyms:
Spinocerebellar Ataxia, Recessive; Spinocerebellar ataxia, autosomal recessive
Identifiers:
MONDO: MONDO:0015244; MedGen: C5575375; Orphanet: 1172; OMIM: PS213200

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000355265Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

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 Illumina Laboratory Services, Illumina, SCV000355265.2

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

Last Updated: Sep 29, 2024