NM_020247.5(COQ8A):c.1185C>G (p.Ile395Met) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 12, 2021
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:: RCV002737618.2

Allele description [Variation Report for NM_020247.5(COQ8A):c.1185C>G (p.Ile395Met)]

NM_020247.5(COQ8A):c.1185C>G (p.Ile395Met)

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.1185C>G (p.Ile395Met)

HGVS:

NC_000001.11:g.226983783C>G
NG_012825.2:g.91248C>G
NM_020247.5:c.1185C>GMANE SELECT
NP_064632.2:p.Ile395Met
LRG_1092t1:c.1185C>G
LRG_1092:g.91248C>G
LRG_1092p1:p.Ile395Met
NC_000001.10:g.227171484C>G
NM_020247.4:c.1185C>G

Protein change:

I395M

Molecular consequence:

NM_020247.5:c.1185C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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glycosyltransferase [Rodentibacter pneumotropicus]
glycosyltransferase [Rodentibacter pneumotropicus]
gi|1540108629|emb|VEH68263.1|

Protein
WALSEDRAFT_68580 [Wallemia mellicola CBS 633.66]
WALSEDRAFT_68580 [Wallemia mellicola CBS 633.66]
Gene ID:18475430

Gene
TR34_RS01185 [Rodentibacter pneumotropicus]
TR34_RS01185 [Rodentibacter pneumotropicus]
Gene ID:61266236

Gene
Coturnix
Coturnix
A genus of BIRDS in the family Phasianidae, order GALLIFORMES, containing the common European and other Old World QUAIL.<br/>Year introduced: 1991(1975)

MeSH
Nucleotide Transport Proteins
Nucleotide Transport Proteins
Proteins involved in the transport of NUCLEOTIDES across cellular membranes.<br/>Year introduced: 2003

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003574534	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 12, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003574534

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 12, 2021)

germline

clinical testing

Citation Link

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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

Details of each submission

From Ambry Genetics, SCV003574534.2

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

Description

The c.1185C>G (p.I395M) alteration is located in exon 10 (coding exon 9) of the COQ8A gene. This alteration results from a C to G substitution at nucleotide position 1185, causing the isoleucine (I) at amino acid position 395 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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