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NM_004544.3(NDUFA10):c.-92C>T AND Mitochondrial complex I deficiency

Germline classification:
Uncertain significance (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:
RCV000335419.14

Allele description [Variation Report for NM_004544.3(NDUFA10):c.-92C>T]

NM_004544.3(NDUFA10):c.-92C>T

Gene:
NDUFA10:NADH:ubiquinone oxidoreductase subunit A10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_004544.3(NDUFA10):c.-92C>T
HGVS:
  • NC_000002.12:g.240025393G>A
  • NG_031855.2:g.5010C>T
  • NG_098250.1:g.157G>A
  • NG_098250.2:g.225G>A
  • NM_001322019.1:c.-92C>T
  • NM_001322020.1:c.-92C>T
  • NM_004544.3:c.-92C>T
  • NC_000002.11:g.240964810G>A
  • NR_136155.1:n.10C>T
  • NR_136156.1:n.10C>T
  • NR_136157.1:n.10C>T
  • NR_136158.1:n.10C>T
Links:
dbSNP: rs559797625
NCBI 1000 Genomes Browser:
rs559797625

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000429024Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000429024.2

#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: Jun 2, 2024