NM_004328.4(BCS1L):c.548G>A (p.Arg183His) AND Pili torti-deafness syndrome

Clinical significance:Pathogenic (Last evaluated: Feb 22, 2007)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000006545.4

Allele description [Variation Report for NM_004328.4(BCS1L):c.548G>A (p.Arg183His)]

NM_004328.4(BCS1L):c.548G>A (p.Arg183His)

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_004328.4(BCS1L):c.548G>A (p.Arg183His)
HGVS:
  • NC_000002.12:g.218661846G>A
  • NG_008018.1:g.7191G>A
  • NM_001257344.1:c.548G>A
  • NM_004328.4:c.548G>A
  • NP_001244273.1:p.Arg183His
  • NP_004319.1:p.Arg183His
  • LRG_539t1:c.548G>A
  • LRG_539t2:c.548G>A
  • LRG_539:g.7191G>A
  • LRG_539p1:p.Arg183His
  • LRG_539p2:p.Arg183His
  • NC_000002.11:g.219526569G>A
  • Q9Y276:p.Arg183His
Protein change:
R183H; ARG183HIS
Links:
UniProtKB: Q9Y276#VAR_032089; OMIM: 603647.0008; dbSNP: rs121908577
NCBI 1000 Genomes Browser:
rs121908577
Molecular consequence:
  • NM_004328.4:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pili torti-deafness syndrome (BJS)
Identifiers:
MedGen: C0266006; Orphanet: 123; OMIM: 262000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000026728OMIMno assertion criteria providedPathogenic
(Feb 22, 2007)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.

Lubianca Neto JF, Lu L, Eavey RD, Flores MA, Caldera RM, Sangwatanaroj S, Schott JJ, McDonough B, Santos JI, Seidman CE, Seidman JG.

Am J Hum Genet. 1998 May;62(5):1107-12.

PubMed [citation]
PMID:
9545407
PMCID:
PMC1377094

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

Details of each submission

From OMIM, SCV000026728.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In affected members of the family with Bjornstad syndrome (BJS; 262000) in which Lubianca Neto et al. (1998) demonstrated linkage to 2q, Hinson et al. (2007) identified homozygosity for a C-to-T transition in the BCS1L gene, resulting in an arg183-to-his (R183H) substitution. Eight individuals in 2 sibships related as first cousins once removed were affected; the parents in each case were consanguineous.

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

Last Updated: Mar 30, 2019

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