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NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu) AND Mitochondrial complex 1 deficiency, nuclear type 16

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000990291.1

Allele description [Variation Report for NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu)]

NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu)

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.146G>T (p.Arg49Leu)
HGVS:
  • NC_000020.11:g.13785214G>T
  • NG_015811.1:g.5189G>T
  • NM_001039375.3:c.146G>T
  • NM_001352403.2:c.-222G>T
  • NM_001352406.2:c.-436G>T
  • NM_001352407.2:c.-550G>T
  • NM_001352408.2:c.146G>T
  • NM_024120.5:c.146G>TMANE SELECT
  • NP_001034464.1:p.Arg49Leu
  • NP_001339337.1:p.Arg49Leu
  • NP_077025.2:p.Arg49Leu
  • NC_000020.10:g.13765860G>T
  • NR_029377.2:n.187G>T
  • NR_147978.2:n.187G>T
  • NR_147979.2:n.187G>T
  • NR_147980.2:n.187G>T
  • NR_147981.2:n.187G>T
  • NR_147982.2:n.187G>T
  • NR_147983.2:n.187G>T
Protein change:
R49L
Links:
dbSNP: rs1600305570
NCBI 1000 Genomes Browser:
rs1600305570
Molecular consequence:
  • NM_001352403.2:c.-222G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352406.2:c.-436G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352407.2:c.-550G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001039375.3:c.146G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352408.2:c.146G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024120.5:c.146G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_029377.2:n.187G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147978.2:n.187G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147979.2:n.187G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147980.2:n.187G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147981.2:n.187G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147982.2:n.187G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147983.2:n.187G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mitochondrial complex 1 deficiency, nuclear type 16
Synonyms:
Mitochondrial complex I deficiency, nuclear type 16
Identifiers:
MONDO: MONDO:0032621; MedGen: C4748785; OMIM: 618238

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001141222Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001141222.1

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

Last Updated: May 1, 2024