NM_004328.4(BCS1L):c.628G>A (p.Asp210Asn) AND Leigh syndrome

Clinical significance:Likely benign (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:
RCV000281286.1

Allele description [Variation Report for NM_004328.4(BCS1L):c.628G>A (p.Asp210Asn)]

NM_004328.4(BCS1L):c.628G>A (p.Asp210Asn)

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.628G>A (p.Asp210Asn)
Other names:
p.D210N:GAT>AAT
HGVS:
  • NC_000002.12:g.218661926G>A
  • NG_008018.1:g.7271G>A
  • NM_001257344.1:c.628G>A
  • NM_004328.4:c.628G>A
  • NP_001244273.1:p.Asp210Asn
  • NP_004319.1:p.Asp210Asn
  • LRG_539t1:c.628G>A
  • LRG_539t2:c.628G>A
  • LRG_539:g.7271G>A
  • LRG_539p1:p.Asp210Asn
  • LRG_539p2:p.Asp210Asn
  • NC_000002.11:g.219526649G>A
Protein change:
D210N
Links:
dbSNP: rs58447305
NCBI 1000 Genomes Browser:
rs58447305
Molecular consequence:
  • NM_004328.4:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000427440Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.

Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O, Zeviani M.

Am J Hum Genet. 2008 Sep;83(3):415-23. doi: 10.1016/j.ajhg.2008.08.009. Epub 2008 Sep 4.

PubMed [citation]
PMID:
18771761
PMCID:
PMC2556431

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000427440.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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