NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile) AND Mitochondrial disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 19, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000680370.1

Allele description [Variation Report for NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile)]

NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile)

Gene:

NDUFA6:NADH:ubiquinone oxidoreductase subunit A6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.2

Genomic location:

Preferred name:

NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile)

HGVS:

NC_000022.11:g.42090742C>T
NG_051973.1:g.5214G>A
NM_002490.6:c.3G>AMANE SELECT
NP_002481.3:p.Met1Ile
NC_000022.10:g.42486746C>T
NM_002490.4:c.81G>A
NM_002490.5:c.3G>A

Protein change:

M1I

Links:

OMIM: 602138.0004; dbSNP: rs1023075742

NCBI 1000 Genomes Browser:

rs1023075742

Molecular consequence:

NM_002490.6:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_002490.6:c.3G>A - 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
SCV000787623	Wellcome Centre for Mitochondrial Research, Newcastle University	no assertion criteria provided	Pathogenic (Jul 19, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000787623

Wellcome Centre for Mitochondrial Research, Newcastle University

no assertion criteria provided

Pathogenic
(Jul 19, 2018)

germline

clinical testing

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

Details of each submission

From Wellcome Centre for Mitochondrial Research, Newcastle University, SCV000787623.2

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

Last Updated: Dec 9, 2023

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