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NM_001079866.2(BCS1L):c.642G>A (p.Trp214Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 11, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001382742.2

Allele description [Variation Report for NM_001079866.2(BCS1L):c.642G>A (p.Trp214Ter)]

NM_001079866.2(BCS1L):c.642G>A (p.Trp214Ter)

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.642G>A (p.Trp214Ter)
HGVS:
  • NC_000002.12:g.218661940G>A
  • NG_008018.1:g.7285G>A
  • NG_033099.1:g.2601C>T
  • NM_001079866.2:c.642G>AMANE SELECT
  • NM_001257342.2:c.642G>A
  • NM_001257343.2:c.642G>A
  • NM_001257344.2:c.642G>A
  • NM_001318836.2:c.282G>A
  • NM_001320717.2:c.642G>A
  • NM_001371443.1:c.642G>A
  • NM_001371444.1:c.642G>A
  • NM_001371446.1:c.642G>A
  • NM_001371447.1:c.642G>A
  • NM_001371448.1:c.642G>A
  • NM_001371449.1:c.642G>A
  • NM_001371450.1:c.642G>A
  • NM_001371451.1:c.282G>A
  • NM_001371452.1:c.141G>A
  • NM_001371453.1:c.141G>A
  • NM_001371454.1:c.141G>A
  • NM_001371455.1:c.141G>A
  • NM_001371456.1:c.141G>A
  • NM_001374085.1:c.642G>A
  • NM_001374086.1:c.141G>A
  • NM_004328.5:c.642G>A
  • NP_001073335.1:p.Trp214Ter
  • NP_001244271.1:p.Trp214Ter
  • NP_001244272.1:p.Trp214Ter
  • NP_001244273.1:p.Trp214Ter
  • NP_001305765.1:p.Trp94Ter
  • NP_001307646.1:p.Trp214Ter
  • NP_001358372.1:p.Trp214Ter
  • NP_001358373.1:p.Trp214Ter
  • NP_001358375.1:p.Trp214Ter
  • NP_001358376.1:p.Trp214Ter
  • NP_001358377.1:p.Trp214Ter
  • NP_001358378.1:p.Trp214Ter
  • NP_001358379.1:p.Trp214Ter
  • NP_001358380.1:p.Trp94Ter
  • NP_001358381.1:p.Trp47Ter
  • NP_001358382.1:p.Trp47Ter
  • NP_001358383.1:p.Trp47Ter
  • NP_001358384.1:p.Trp47Ter
  • NP_001358385.1:p.Trp47Ter
  • NP_001361014.1:p.Trp214Ter
  • NP_001361015.1:p.Trp47Ter
  • NP_004319.1:p.Trp214Ter
  • LRG_539t1:c.642G>A
  • LRG_539:g.7285G>A
  • NC_000002.11:g.219526663G>A
  • NR_163955.1:n.1654G>A
Protein change:
W214*
Links:
dbSNP: rs754414954
NCBI 1000 Genomes Browser:
rs754414954
Molecular consequence:
  • NR_163955.1:n.1654G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001079866.2:c.642G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257342.2:c.642G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257343.2:c.642G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257344.2:c.642G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318836.2:c.282G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320717.2:c.642G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371443.1:c.642G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371444.1:c.642G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371446.1:c.642G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371447.1:c.642G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371448.1:c.642G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371449.1:c.642G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371450.1:c.642G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371451.1:c.282G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371452.1:c.141G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371453.1:c.141G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371454.1:c.141G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371455.1:c.141G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371456.1:c.141G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374085.1:c.642G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374086.1:c.141G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004328.5:c.642G>A - 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
SCV001581645Invitaecriteria provided, single submitter
Pathogenic
(Oct 11, 2021)
germlineclinical testing

PubMed (7)
[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

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L.

Am J Hum Genet. 2002 Oct;71(4):863-76. Epub 2002 Sep 5.

PubMed [citation]
PMID:
12215968
PMCID:
PMC378542

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
See all PubMed Citations (7)

Details of each submission

From Invitae, SCV001581645.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This sequence change creates a premature translational stop signal (p.Trp214*) in the BCS1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCS1L are known to be pathogenic (PMID: 12215968, 17314340, 19162478, 19508421, 22277166, 25895478). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BCS1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032892). 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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