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NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly) AND Mitochondrial complex I deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 23, 2020
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:
RCV001825493.1

Allele description [Variation Report for NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly)]

NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly)

Genes:
LOC130065433:ATAC-STARR-seq lymphoblastoid active region 17552 [Gene]
NDUFAF5:NADH:ubiquinone oxidoreductase complex assembly factor 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p12.1
Genomic location:
Preferred name:
NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly)
HGVS:
  • NC_000020.11:g.13785093C>G
  • NG_015811.1:g.5068C>G
  • NM_001039375.3:c.25C>G
  • NM_001352403.2:c.-343C>G
  • NM_001352406.2:c.-557C>G
  • NM_001352407.2:c.-671C>G
  • NM_001352408.2:c.25C>G
  • NM_024120.5:c.25C>GMANE SELECT
  • NP_001034464.1:p.Arg9Gly
  • NP_001339337.1:p.Arg9Gly
  • NP_077025.2:p.Arg9Gly
  • NC_000020.10:g.13765739C>G
  • NM_024120.4:c.25C>G
  • NR_029377.2:n.66C>G
  • NR_147978.2:n.66C>G
  • NR_147979.2:n.66C>G
  • NR_147980.2:n.66C>G
  • NR_147981.2:n.66C>G
  • NR_147982.2:n.66C>G
  • NR_147983.2:n.66C>G
Protein change:
R9G
Links:
dbSNP: rs768566143
NCBI 1000 Genomes Browser:
rs768566143
Molecular consequence:
  • NM_001352403.2:c.-343C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352406.2:c.-557C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352407.2:c.-671C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001039375.3:c.25C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352408.2:c.25C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024120.5:c.25C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_029377.2:n.66C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147978.2:n.66C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147979.2:n.66C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147980.2:n.66C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147981.2:n.66C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147982.2:n.66C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147983.2:n.66C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mitochondrial complex I deficiency
Synonyms:
Complex 1 mitochondrial respiratory chain deficiency; NADH coenzyme Q reductase deficiency
Identifiers:
MONDO: MONDO:0100133; MedGen: C1838979; Orphanet: 2609

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002092877Natera, Inc.
no assertion criteria provided
Uncertain significance
(Oct 23, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002092877.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024