NM_020247.5(COQ8A):c.1029_1030delinsCA (p.Gln343_Val344delinsHisMet) AND Mitochondrial disease

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 18, 2019
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:: RCV000852403.1

Allele description [Variation Report for NM_020247.5(COQ8A):c.1029_1030delinsCA (p.Gln343_Val344delinsHisMet)]

NM_020247.5(COQ8A):c.1029_1030delinsCA (p.Gln343_Val344delinsHisMet)

Gene:

COQ8A:coenzyme Q8A [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

1q42.13

Genomic location:

Preferred name:

NM_020247.5(COQ8A):c.1029_1030delinsCA (p.Gln343_Val344delinsHisMet)

HGVS:

NC_000001.11:g.226982983_226982984delinsCA
NG_012825.2:g.90448_90449delinsCA
NM_020247.5:c.1029_1030delinsCAMANE SELECT
NP_064632.2:p.Gln343_Val344delinsHisMet
LRG_1092t1:c.1029_1030delinsCA
LRG_1092:g.90448_90449delinsCA
LRG_1092p1:p.Gln343_Val344delinsHisMet
NC_000001.10:g.227170684_227170685delinsCA
NM_020247.4:c.1029_1030delinsCA

Links:

dbSNP: rs1572079834

NCBI 1000 Genomes Browser:

rs1572079834

Molecular consequence:

NM_020247.5:c.1029_1030delinsCA - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Mitochondrial disease
Synonyms:: Mitochondrial diseases; Mitochondrial disorder
Identifiers:: MONDO: MONDO:0044970; MeSH: D028361; MedGen: C0751651; Orphanet: 68380

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000995086	Wellcome Centre for Mitochondrial Research, Newcastle University	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 18, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000995086

Wellcome Centre for Mitochondrial Research, Newcastle University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 18, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Wellcome Centre for Mitochondrial Research, Newcastle University, SCV000995086.1

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

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

Last Updated: Dec 9, 2023

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