NM_021074.5(NDUFV2):c.301-3del AND Mitochondrial complex 1 deficiency, nuclear type 7

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 22, 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:: RCV003758722.1

Allele description [Variation Report for NM_021074.5(NDUFV2):c.301-3del]

NM_021074.5(NDUFV2):c.301-3del

Genes:

NDUFV2:NADH:ubiquinone oxidoreductase core subunit V2 [Gene - OMIM - HGNC]
NDUFV2-AS1:NDUFV2 antisense RNA 1 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

18p11.22

Genomic location:

Preferred name:

NM_021074.5(NDUFV2):c.301-3del

HGVS:

NC_000018.10:g.9122510del
NG_013355.1:g.24881del
NM_021074.5:c.301-3delMANE SELECT
NC_000018.9:g.9122505del
NC_000018.9:g.9122508del
NM_021074.3:c.301-3delT
NM_021074.4:c.301-3del

Links:

dbSNP: rs759348789

NCBI 1000 Genomes Browser:

rs759348789

Molecular consequence:

NM_021074.5:c.301-3del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Mitochondrial complex 1 deficiency, nuclear type 7
Synonyms:: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
Identifiers:: MONDO: MONDO:0032612; MedGen: C4748760; OMIM: 618229

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004562850	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 22, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004562850

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Nov 22, 2023)

germline

clinical testing

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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004562850.1

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine