NM_003849.3(SUCLG1):c.98-15_98-14insAACC AND Mitochondrial DNA depletion syndrome

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000350089.1

Allele description [Variation Report for NM_003849.3(SUCLG1):c.98-15_98-14insAACC]

NM_003849.3(SUCLG1):c.98-15_98-14insAACC

Gene:
SUCLG1:succinate-CoA ligase alpha subunit [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
2p11.2
Genomic location:
Preferred name:
NM_003849.3(SUCLG1):c.98-15_98-14insAACC
HGVS:
  • NC_000002.12:g.84449766_84449767insGGTT
  • NG_016755.1:g.14696_14697insAACC
  • NM_003849.3:c.98-15_98-14insAACC
  • NC_000002.11:g.84676890_84676891insGGTT
Links:
dbSNP: rs886056352
NCBI 1000 Genomes Browser:
rs886056352
Molecular consequence:
  • NM_003849.3:c.98-15_98-14insAACC - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Mitochondrial DNA depletion syndrome
Synonyms:
mitochondrial DNA depletion
Identifiers:
MedGen: C0342782; OMIM: PS603041

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000432167Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000432167.2

#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: Mar 30, 2019

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