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NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 25, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001070513.3

Allele description [Variation Report for NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter)]

NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter)

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.355C>T (p.Arg119Ter)
HGVS:
  • NC_000002.12:g.218661440C>T
  • NG_008018.1:g.6785C>T
  • NG_033099.1:g.3101G>A
  • NM_001079866.2:c.355C>TMANE SELECT
  • NM_001257342.2:c.355C>T
  • NM_001257343.2:c.355C>T
  • NM_001257344.2:c.355C>T
  • NM_001318836.2:c.-6C>T
  • NM_001320717.2:c.355C>T
  • NM_001371443.1:c.355C>T
  • NM_001371444.1:c.355C>T
  • NM_001371446.1:c.355C>T
  • NM_001371447.1:c.355C>T
  • NM_001371448.1:c.355C>T
  • NM_001371449.1:c.355C>T
  • NM_001371450.1:c.355C>T
  • NM_001371451.1:c.-6C>T
  • NM_001371452.1:c.-41-319C>T
  • NM_001371453.1:c.-122C>T
  • NM_001371454.1:c.-122C>T
  • NM_001371455.1:c.-122C>T
  • NM_001371456.1:c.-122C>T
  • NM_001374085.1:c.355C>T
  • NM_001374086.1:c.-122C>T
  • NM_004328.5:c.355C>T
  • NP_001073335.1:p.Arg119Ter
  • NP_001244271.1:p.Arg119Ter
  • NP_001244272.1:p.Arg119Ter
  • NP_001244273.1:p.Arg119Ter
  • NP_001307646.1:p.Arg119Ter
  • NP_001358372.1:p.Arg119Ter
  • NP_001358373.1:p.Arg119Ter
  • NP_001358375.1:p.Arg119Ter
  • NP_001358376.1:p.Arg119Ter
  • NP_001358377.1:p.Arg119Ter
  • NP_001358378.1:p.Arg119Ter
  • NP_001358379.1:p.Arg119Ter
  • NP_001361014.1:p.Arg119Ter
  • NP_004319.1:p.Arg119Ter
  • LRG_539t1:c.355C>T
  • LRG_539:g.6785C>T
  • NC_000002.11:g.219526163C>T
  • NM_004328.4:c.355C>T
  • NR_163955.1:n.1367C>T
Protein change:
R119*
Links:
dbSNP: rs770749420
NCBI 1000 Genomes Browser:
rs770749420
Molecular consequence:
  • NM_001318836.2:c.-6C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371451.1:c.-6C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371453.1:c.-122C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371454.1:c.-122C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371455.1:c.-122C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371456.1:c.-122C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374086.1:c.-122C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371452.1:c.-41-319C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_163955.1:n.1367C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001079866.2:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257342.2:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257343.2:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257344.2:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320717.2:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371443.1:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371444.1:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371446.1:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371447.1:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371448.1:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371449.1:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371450.1:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374085.1:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004328.5:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001235762Invitaecriteria provided, single submitter
Pathogenic
(Sep 25, 2021)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

Hinson JT, Fantin VR, Schönberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE.

N Engl J Med. 2007 Feb 22;356(8):809-19.

PubMed [citation]
PMID:
17314340

Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

Zhang J, Duo L, Lin Z, Wang H, Yin J, Cao X, Zhao J, Dai L, Liu X, Zhang J, Yang Y, Tang Z.

Gene. 2015 Jul 15;566(1):84-8. doi: 10.1016/j.gene.2015.04.039. Epub 2015 Apr 18.

PubMed [citation]
PMID:
25895478
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001235762.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Arg119*) in the BCS1L gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs770749420, ExAC 0.03%). This variant has not been reported in the literature in individuals with BCS1L-related conditions. Loss-of-function variants in BCS1L are known to be pathogenic (PMID: 17314340, 25895478). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: May 24, 2022

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