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Single allele AND Mitochondrial complex I deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 28, 2018
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:
RCV000678000.2

Allele description [Variation Report for Single allele]

Genes:
  • ARHGAP5-AS1:ARHGAP5 antisense RNA 1 (head to head) [Gene - HGNC]
  • LOC130055443:ATAC-STARR-seq lymphoblastoid active region 8227 [Gene]
  • LOC130055444:ATAC-STARR-seq lymphoblastoid active region 8228 [Gene]
  • LOC130055447:ATAC-STARR-seq lymphoblastoid active region 8229 [Gene]
  • LOC130055451:ATAC-STARR-seq lymphoblastoid active region 8232 [Gene]
  • LOC130055452:ATAC-STARR-seq lymphoblastoid active region 8233 [Gene]
  • LOC130055453:ATAC-STARR-seq lymphoblastoid active region 8236 [Gene]
  • LOC130055445:ATAC-STARR-seq lymphoblastoid silent region 5650 [Gene]
  • LOC130055446:ATAC-STARR-seq lymphoblastoid silent region 5651 [Gene]
  • LOC130055448:ATAC-STARR-seq lymphoblastoid silent region 5652 [Gene]
  • LOC130055449:ATAC-STARR-seq lymphoblastoid silent region 5654 [Gene]
  • LOC130055450:ATAC-STARR-seq lymphoblastoid silent region 5656 [Gene]
  • LOC130055454:ATAC-STARR-seq lymphoblastoid silent region 5657 [Gene]
  • LOC126861912:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:32370891-32372090 [Gene]
  • LOC126861913:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:32413341-32414540 [Gene]
  • DTD2:D-aminoacyl-tRNA deacylase 2 [Gene - HGNC]
  • GPR33:G protein-coupled receptor 33 [Gene - OMIM - HGNC]
  • HEATR5A:HEAT repeat containing 5A [Gene - HGNC]
  • HEATR5A-DT:HEATR5A divergent transcript [Gene - HGNC]
  • HECTD1:HECT domain E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • LOC126861911:MED14-independent group 3 enhancer GRCh37_chr14:31961704-31962903 [Gene]
  • LOC126861914:MED14-independent group 3 enhancer GRCh37_chr14:32489479-32490678 [Gene]
  • LOC129390617:MPRA-validated peak2131 silencer [Gene]
  • LOC129390618:MPRA-validated peak2132 silencer [Gene]
  • LOC129390619:MPRA-validated peak2133 silencer [Gene]
  • NUBPL:NUBP iron-sulfur cluster assembly factor, mitochondrial [Gene - OMIM - HGNC]
  • NUBPL-DT:NUBPL divergent transcript [Gene - HGNC]
  • ARHGAP5:Rho GTPase activating protein 5 [Gene - OMIM - HGNC]
  • LOC112267854:Sharpr-MPRA regulatory region 11779 [Gene]
  • LOC124995356:Sharpr-MPRA regulatory region 13013 [Gene]
  • LOC121838588:Sharpr-MPRA regulatory region 2273 [Gene]
  • LOC124995355:Sharpr-MPRA regulatory region 7641 [Gene]
  • LOC124995359:Sharpr-MPRA regulatory region 9862 [Gene]
  • AP4S1:adaptor related protein complex 4 subunit sigma 1 [Gene - OMIM - HGNC]
  • LINC02313:long intergenic non-protein coding RNA 2313 [Gene - HGNC]
  • MIR624:microRNA 624 [Gene - HGNC]
  • STRN3:striatin 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q12
Genomic location:
HGVS:
  • NC_000014.9:g.31012250_32193706del
  • NC_000014.8:g.31481456_32662912del

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
SCV000804155Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Uncertain significance
(Mar 28, 2018) 		maternalprovider interpretation

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot providednot providednot providedprovider interpretation

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee.

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Geisinger Autism and Developmental Medicine Institute, Geisinger Health System, SCV000804155.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretation PubMed (1)

Description

This deletion was identified in a 6 year old female with microcephaly, history of developmental delays, Duane's syndrome, and alopecia. Parental testing was not completed. This deletion includes 10 genes including, STRN3, CPR33, ARGHAP5, NUBPL, and APA4S1. NUBPL sequencing and del/dup was negative for any additional changes in this gene. Individuals with deletions of NUBPL are typically asymptomatic carriers for complex 1 defiencicy. The clinical significance of this deletion is unknown.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024