NM_020247.5(COQ8A):c.993C>T (p.Phe331=) AND Coenzyme Q10 deficiency

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 6, 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:: RCV003993734.1

Allele description [Variation Report for NM_020247.5(COQ8A):c.993C>T (p.Phe331=)]

NM_020247.5(COQ8A):c.993C>T (p.Phe331=)

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.993C>T (p.Phe331=)

Other names:

p.F331F:TTC>TTT

HGVS:

NC_000001.11:g.226982947C>T
NG_012825.2:g.90412C>T
NM_020247.5:c.993C>TMANE SELECT
NP_064632.2:p.Phe331=
LRG_1092t1:c.993C>T
LRG_1092:g.90412C>T
LRG_1092p1:p.Phe331=
NC_000001.10:g.227170648C>T
NG_012825.1:g.47711C>T
NM_020247.4:c.993C>T
NP_064632.2:p.Leu314_Gln360del
p.Phe331Phe

Links:

OMIM: 606980.0010; dbSNP: rs41303129

NCBI 1000 Genomes Browser:

rs41303129

Molecular consequence:

NM_020247.5:c.993C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Coenzyme Q10 deficiency
Synonyms:: Coenzyme Q10 deficiency, primary; CoQ10 deficiency; CoQ10 deficiency, primary
Identifiers:: MONDO: MONDO:0018151; MedGen: C1843920; OMIM: PS607426

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004812795	Molecular Genetics, Royal Melbourne Hospital See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jun 6, 2023)	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

SCV004812795

Molecular Genetics, Royal Melbourne Hospital

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jun 6, 2023)

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	no	not provided	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 Molecular Genetics, Royal Melbourne Hospital, SCV004812795.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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