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NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) AND Leigh syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV000281286.5

Allele description [Variation Report for NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)]

NM_001079866.2(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_001079866.2(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
  • NG_033099.1:g.2615C>T
  • NM_001079866.2:c.628G>AMANE SELECT
  • NM_001257342.2:c.628G>A
  • NM_001257343.2:c.628G>A
  • NM_001257344.2:c.628G>A
  • NM_001318836.2:c.268G>A
  • NM_001320717.2:c.628G>A
  • NM_001371443.1:c.628G>A
  • NM_001371444.1:c.628G>A
  • NM_001371446.1:c.628G>A
  • NM_001371447.1:c.628G>A
  • NM_001371448.1:c.628G>A
  • NM_001371449.1:c.628G>A
  • NM_001371450.1:c.628G>A
  • NM_001371451.1:c.268G>A
  • NM_001371452.1:c.127G>A
  • NM_001371453.1:c.127G>A
  • NM_001371454.1:c.127G>A
  • NM_001371455.1:c.127G>A
  • NM_001371456.1:c.127G>A
  • NM_001374085.1:c.628G>A
  • NM_001374086.1:c.127G>A
  • NM_004328.5:c.628G>A
  • NP_001073335.1:p.Asp210Asn
  • NP_001244271.1:p.Asp210Asn
  • NP_001244272.1:p.Asp210Asn
  • NP_001244273.1:p.Asp210Asn
  • NP_001305765.1:p.Asp90Asn
  • NP_001307646.1:p.Asp210Asn
  • NP_001358372.1:p.Asp210Asn
  • NP_001358373.1:p.Asp210Asn
  • NP_001358375.1:p.Asp210Asn
  • NP_001358376.1:p.Asp210Asn
  • NP_001358377.1:p.Asp210Asn
  • NP_001358378.1:p.Asp210Asn
  • NP_001358379.1:p.Asp210Asn
  • NP_001358380.1:p.Asp90Asn
  • NP_001358381.1:p.Asp43Asn
  • NP_001358382.1:p.Asp43Asn
  • NP_001358383.1:p.Asp43Asn
  • NP_001358384.1:p.Asp43Asn
  • NP_001358385.1:p.Asp43Asn
  • NP_001361014.1:p.Asp210Asn
  • NP_001361015.1:p.Asp43Asn
  • NP_004319.1:p.Asp210Asn
  • NP_004319.1:p.Asp210Asn
  • LRG_539t1:c.628G>A
  • LRG_539:g.7271G>A
  • LRG_539p1:p.Asp210Asn
  • NC_000002.11:g.219526649G>A
  • NM_004328.4:c.628G>A
  • NR_163955.1:n.1640G>A
Protein change:
D210N
Links:
dbSNP: rs58447305
NCBI 1000 Genomes Browser:
rs58447305
Molecular consequence:
  • NM_001079866.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318836.2:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371451.1:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371452.1:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371453.1:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371454.1:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371455.1:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371456.1:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374086.1:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.1640G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Leigh syndrome (NULS)
Synonyms:
Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009723; 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 Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Likely benign
(Apr 27, 2017)
germlineclinical testing

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

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 Laboratory Services, Illumina, SCV000427440.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: May 19, 2024