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NM_001079866.2(BCS1L):c.1007+16G>A AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 1, 2021
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:
RCV002492450.1

Allele description [Variation Report for NM_001079866.2(BCS1L):c.1007+16G>A]

NM_001079866.2(BCS1L):c.1007+16G>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_001079866.2(BCS1L):c.1007+16G>A
HGVS:
  • NC_000002.12:g.218663016G>A
  • NG_008018.1:g.8361G>A
  • NG_033099.1:g.1525C>T
  • NM_001079866.2:c.1007+16G>AMANE SELECT
  • NM_001257342.2:c.1007+16G>A
  • NM_001257343.2:c.1007+16G>A
  • NM_001257344.2:c.1007+16G>A
  • NM_001318836.2:c.647+16G>A
  • NM_001320717.2:c.1007+16G>A
  • NM_001371443.1:c.1007+16G>A
  • NM_001371444.1:c.1007+16G>A
  • NM_001371446.1:c.1007+16G>A
  • NM_001371447.1:c.1007+16G>A
  • NM_001371448.1:c.1007+16G>A
  • NM_001371449.1:c.1007+16G>A
  • NM_001371450.1:c.1007+16G>A
  • NM_001371451.1:c.647+16G>A
  • NM_001371452.1:c.506+16G>A
  • NM_001371453.1:c.506+16G>A
  • NM_001371454.1:c.506+16G>A
  • NM_001371455.1:c.506+16G>A
  • NM_001371456.1:c.506+16G>A
  • NM_001374085.1:c.1007+16G>A
  • NM_001374086.1:c.506+16G>A
  • NM_004328.5:c.1007+16G>A
  • LRG_539t1:c.1007+16G>A
  • LRG_539:g.8361G>A
  • NC_000002.11:g.219527739G>A
  • NM_004328.4:c.1007+16G>A
Links:
dbSNP: rs115594405
NCBI 1000 Genomes Browser:
rs115594405
Molecular consequence:
  • NM_001079866.2:c.1007+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257342.2:c.1007+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257343.2:c.1007+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257344.2:c.1007+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318836.2:c.647+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001320717.2:c.1007+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371443.1:c.1007+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371444.1:c.1007+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371446.1:c.1007+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371447.1:c.1007+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371448.1:c.1007+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371449.1:c.1007+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371450.1:c.1007+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371451.1:c.647+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371452.1:c.506+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371453.1:c.506+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371454.1:c.506+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371455.1:c.506+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371456.1:c.506+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374085.1:c.1007+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374086.1:c.506+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004328.5:c.1007+16G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Pili torti-deafness syndrome (BJS)
Synonyms:
Bjornstad syndrome; Pili torti and nerve deafness; Pili torti-sensorineural hearing loss; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009872; MedGen: C0266006; Orphanet: 123; OMIM: 262000
Name:
GRACILE syndrome (FLNMS)
Synonyms:
Finnish lactic acidosis with hepatic hemosiderosis; Fellman syndrome; Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011308; MedGen: C1864002; Orphanet: 53693; OMIM: 603358
Name:
Mitochondrial complex III deficiency nuclear type 1
Synonyms:
Complex 3 mitochondrial respiratory chain deficiency
Identifiers:
MONDO: MONDO:0007415; MedGen: C3541471; Orphanet: 254902; OMIM: 124000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002798481Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Oct 1, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002798481.1

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

Last Updated: Feb 20, 2024