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NM_001079866.2(BCS1L):c.654_655del (p.Gly219fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 16, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001079866.2(BCS1L):c.654_655del (p.Gly219fs)]

NM_001079866.2(BCS1L):c.654_655del (p.Gly219fs)

BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
NM_001079866.2(BCS1L):c.654_655del (p.Gly219fs)
  • NC_000002.12:g.218661950AG[1]
  • NG_008018.1:g.7295AG[1]
  • NG_033099.1:g.2588CT[1]
  • NM_001079866.2:c.654_655delMANE SELECT
  • NM_001257342.2:c.654_655del
  • NM_001257343.2:c.654_655del
  • NM_001257344.2:c.654_655del
  • NM_001318836.2:c.294_295del
  • NM_001320717.2:c.654_655del
  • NM_001371443.1:c.654_655del
  • NM_001371444.1:c.654_655del
  • NM_001371446.1:c.654_655del
  • NM_001371447.1:c.654_655del
  • NM_001371448.1:c.654_655del
  • NM_001371449.1:c.654_655del
  • NM_001371450.1:c.654_655del
  • NM_001371451.1:c.294_295del
  • NM_001371452.1:c.153_154del
  • NM_001371453.1:c.153_154del
  • NM_001371454.1:c.153_154del
  • NM_001371455.1:c.153_154del
  • NM_001371456.1:c.153_154del
  • NM_001374085.1:c.654_655del
  • NM_001374086.1:c.153_154del
  • NM_004328.5:c.654_655del
  • NP_001073335.1:p.Gly219fs
  • NP_001244271.1:p.Gly219fs
  • NP_001244272.1:p.Gly219fs
  • NP_001244273.1:p.Gly219fs
  • NP_001305765.1:p.Gly99fs
  • NP_001307646.1:p.Gly219fs
  • NP_001358372.1:p.Gly219fs
  • NP_001358373.1:p.Gly219fs
  • NP_001358375.1:p.Gly219fs
  • NP_001358376.1:p.Gly219fs
  • NP_001358377.1:p.Gly219fs
  • NP_001358378.1:p.Gly219fs
  • NP_001358379.1:p.Gly219fs
  • NP_001358380.1:p.Gly99fs
  • NP_001358381.1:p.Gly52fs
  • NP_001358382.1:p.Gly52fs
  • NP_001358383.1:p.Gly52fs
  • NP_001358384.1:p.Gly52fs
  • NP_001358385.1:p.Gly52fs
  • NP_001361014.1:p.Gly219fs
  • NP_001361015.1:p.Gly52fs
  • NP_004319.1:p.Gly219fs
  • LRG_539:g.7295AG[1]
  • NC_000002.11:g.219526673AG[1]
  • NC_000002.11:g.219526673_219526674delAG
  • NM_004328.4:c.654_655delAG
  • NR_163955.1:n.1664AG[1]
Protein change:
dbSNP: rs1575108381
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001079866.2:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257342.2:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257343.2:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257344.2:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318836.2:c.294_295del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320717.2:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371443.1:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371444.1:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371446.1:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371447.1:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371448.1:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371449.1:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371450.1:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371451.1:c.294_295del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371452.1:c.153_154del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371453.1:c.153_154del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371454.1:c.153_154del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371455.1:c.153_154del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371456.1:c.153_154del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374085.1:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374086.1:c.153_154del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004328.5:c.654_655del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_163955.1:n.1664AG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]


none provided
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000944204Invitaecriteria provided, single submitter
(Apr 16, 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



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]

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]
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000944204.2

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


This sequence change creates a premature translational stop signal (p.Gly219Hisfs*44) in the BCS1L gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BCS1L-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in BCS1L are known to be pathogenic (PMID: 17314340, 25895478). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: May 24, 2022

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