NM_020247.5(COQ8A):c.1081-1_1082dup AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 25, 2022
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:: RCV001865313.4

Allele description [Variation Report for NM_020247.5(COQ8A):c.1081-1_1082dup]

NM_020247.5(COQ8A):c.1081-1_1082dup

Gene:

COQ8A:coenzyme Q8A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q42.13

Genomic location:

Preferred name:

NM_020247.5(COQ8A):c.1081-1_1082dup

HGVS:

NC_000001.11:g.226983551_226983553dup
NG_012825.2:g.91016_91018dup
NM_020247.5:c.1081-1_1082dupMANE SELECT
LRG_1092t1:c.1081-1_1082dup
LRG_1092:g.91016_91018dup
NC_000001.10:g.227171250_227171251insAGT
NC_000001.10:g.227171252_227171254dup
NM_020247.4:c.1081-1_1082dupGTA

Links:

dbSNP: rs1057519344

NCBI 1000 Genomes Browser:

rs1057519344

Molecular consequence:

NM_020247.5:c.1081-1_1082dup - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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NFRKB nuclear factor related to kappaB binding protein [Homo sapiens]
NFRKB nuclear factor related to kappaB binding protein [Homo sapiens]
Gene ID:4798

Gene
4798[uid] AND (alive[prop]) (1)
Gene
Asteronyx loveni mitochondrial gene for 16S ribosomal RNA, partial sequence, spe...
Asteronyx loveni mitochondrial gene for 16S ribosomal RNA, partial sequence, specimen_voucher: NSMT:E-6951-F
gi|1394298173|dbj|LC276336.1|

Nucleotide
Asteronyx reticulata mitochondrial gene for 16S ribosomal RNA, partial sequence,...
Asteronyx reticulata mitochondrial gene for 16S ribosomal RNA, partial sequence, specimen_voucher: NSMT:E-6912
gi|1394298192|dbj|LC276355.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002290573	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 25, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 24164873, 17576681, 9536098, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002290573

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 25, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.

Mignot C, Apartis E, Durr A, Marques Lourenço C, Charles P, Devos D, Moreau C, de Lonlay P, Drouot N, Burglen L, Kempf N, Nourisson E, Chantot-Bastaraud S, Lebre AS, Rio M, Chaix Y, Bieth E, Roze E, Bonnet I, Canaple S, Rastel C, Brice A, et al.

Orphanet J Rare Dis. 2013 Oct 28;8:173. doi: 10.1186/1750-1172-8-173.

PubMed [citation]

PMID:: 24164873
PMCID:: PMC3843540

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.

Nucleic Acids Res. 2007;35(13):4250-63. Epub 2007 Jun 18.

PubMed [citation]

PMID:: 17576681
PMCID:: PMC1934990

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002290573.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant has been observed in individual(s) with clinical features of COQ8A-related conditions (PMID: 24164873). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 375333). This variant is also known as p.Gln360_Tyr361ins*. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 9 of the COQ8A gene. It does not directly change the encoded amino acid sequence of the COQ8A protein. It affects a nucleotide within the consensus splice site.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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