NM_004328.4(BCS1L):c.321-12G>A AND Leigh 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:
RCV000285241.1

Allele description [Variation Report for NM_004328.4(BCS1L):c.321-12G>A]

NM_004328.4(BCS1L):c.321-12G>A

Gene:
BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_004328.4(BCS1L):c.321-12G>A
HGVS:
  • NC_000002.12:g.218661394G>A
  • NG_008018.1:g.6739G>A
  • NM_001257344.1:c.321-12G>A
  • NM_004328.4:c.321-12G>A
  • LRG_539t1:c.321-12G>A
  • LRG_539t2:c.321-12G>A
  • LRG_539:g.6739G>A
  • NC_000002.11:g.219526117G>A
Links:
dbSNP: rs776363896
NCBI 1000 Genomes Browser:
rs776363896
Molecular consequence:
  • NM_004328.4:c.321-12G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Leigh syndrome (LS)
Synonyms:
Leigh Disease; Leigh's disease; Leigh's syndrome
Identifiers:
MedGen: C0023264; Orphanet: 506; OMIM: 256000

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000427437Illumina 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, SCV000427437.2

#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

Support Center