NM_001303.4(COX10):c.929-9_929-7dup AND Mitochondrial complex IV deficiency, nuclear type 1

Germline classification:: Likely benign (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:: RCV000297390.5

Allele description [Variation Report for NM_001303.4(COX10):c.929-9_929-7dup]

NM_001303.4(COX10):c.929-9_929-7dup

Gene:

COX10:cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17p12

Genomic location:

Preferred name:

NM_001303.4(COX10):c.929-9_929-7dup

HGVS:

NC_000017.11:g.14206801_14206803dup
NG_008034.1:g.142400_142402dup
NM_001303.4:c.929-9_929-7dupMANE SELECT
NC_000017.10:g.14110115_14110116insCCC
NC_000017.10:g.14110118_14110120dup
NM_001303.3:c.929-9_929-7dupCCC

Links:

dbSNP: rs144296730

NCBI 1000 Genomes Browser:

rs144296730

Molecular consequence:

NM_001303.4:c.929-9_929-7dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Mitochondrial complex IV deficiency, nuclear type 1
Synonyms:: Mitochondrial complex IV deficiency; Complex 4 mitochondrial respiratory chain deficiency; Deficiency of mitochondrial respiratory chain complex4; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0700250; MedGen: C5435656; OMIM: 220110

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000400622	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000400622

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000400622.2

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

#	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: Apr 15, 2024

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