U.S. flag

An official website of the United States government

NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001003574.3

Allele description [Variation Report for NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)]

NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)

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.268C>T (p.Arg90Cys)
HGVS:
  • NC_000002.12:g.218661255C>T
  • NG_008018.1:g.6600C>T
  • NG_033099.1:g.3286G>A
  • NM_001079866.2:c.268C>TMANE SELECT
  • NM_001257342.2:c.268C>T
  • NM_001257343.2:c.268C>T
  • NM_001257344.2:c.268C>T
  • NM_001318836.2:c.-40-151C>T
  • NM_001320717.2:c.268C>T
  • NM_001371443.1:c.268C>T
  • NM_001371444.1:c.268C>T
  • NM_001371446.1:c.268C>T
  • NM_001371447.1:c.268C>T
  • NM_001371448.1:c.268C>T
  • NM_001371449.1:c.268C>T
  • NM_001371450.1:c.268C>T
  • NM_001371451.1:c.-40-151C>T
  • NM_001371452.1:c.-41-504C>T
  • NM_001371453.1:c.-209C>T
  • NM_001371454.1:c.-209C>T
  • NM_001371455.1:c.-209C>T
  • NM_001371456.1:c.-209C>T
  • NM_001374085.1:c.268C>T
  • NM_001374086.1:c.-209C>T
  • NM_004328.5:c.268C>T
  • NP_001073335.1:p.Arg90Cys
  • NP_001244271.1:p.Arg90Cys
  • NP_001244272.1:p.Arg90Cys
  • NP_001244273.1:p.Arg90Cys
  • NP_001307646.1:p.Arg90Cys
  • NP_001358372.1:p.Arg90Cys
  • NP_001358373.1:p.Arg90Cys
  • NP_001358375.1:p.Arg90Cys
  • NP_001358376.1:p.Arg90Cys
  • NP_001358377.1:p.Arg90Cys
  • NP_001358378.1:p.Arg90Cys
  • NP_001358379.1:p.Arg90Cys
  • NP_001361014.1:p.Arg90Cys
  • NP_004319.1:p.Arg90Cys
  • NP_004319.1:p.Arg90Cys
  • LRG_539t1:c.268C>T
  • LRG_539:g.6600C>T
  • LRG_539p1:p.Arg90Cys
  • NC_000002.11:g.219525978C>T
  • NM_001079866.1:c.268C>T
  • NM_004328.4:c.268C>T
  • NR_163955.1:n.1280C>T
Protein change:
R90C
Links:
dbSNP: rs369691608
NCBI 1000 Genomes Browser:
rs369691608
Molecular consequence:
  • NM_001371453.1:c.-209C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371454.1:c.-209C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371455.1:c.-209C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371456.1:c.-209C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374086.1:c.-209C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001318836.2:c.-40-151C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371451.1:c.-40-151C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371452.1:c.-41-504C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001079866.2:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.1280C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Sparse hair
Identifiers:
MedGen: C5551005; Human Phenotype Ontology: HP:0008070
Name:
Intellectual disability, severe
Identifiers:
MedGen: C0036857; Human Phenotype Ontology: HP:0010864
Name:
Movement disorder
Synonyms:
Abnormality of movement
Identifiers:
MONDO: MONDO:0005395; MedGen: C0026650; Human Phenotype Ontology: HP:0100022

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161951NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Pathogenicunknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]
PMID:
32581362
PMCID:
PMC7610553

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001161951.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024