NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) AND Pili torti-deafness syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 24, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000006545.5

Allele description [Variation Report for NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)]

NM_001079866.2(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_001079866.2(BCS1L):c.548G>A (p.Arg183His)

HGVS:

NC_000002.12:g.218661846G>A
NG_008018.1:g.7191G>A
NG_033099.1:g.2695C>T
NM_001079866.2:c.548G>AMANE SELECT
NM_001257342.2:c.548G>A
NM_001257343.2:c.548G>A
NM_001257344.2:c.548G>A
NM_001318836.2:c.188G>A
NM_001320717.2:c.548G>A
NM_001371443.1:c.548G>A
NM_001371444.1:c.548G>A
NM_001371446.1:c.548G>A
NM_001371447.1:c.548G>A
NM_001371448.1:c.548G>A
NM_001371449.1:c.548G>A
NM_001371450.1:c.548G>A
NM_001371451.1:c.188G>A
NM_001371452.1:c.47G>A
NM_001371453.1:c.47G>A
NM_001371454.1:c.47G>A
NM_001371455.1:c.47G>A
NM_001371456.1:c.47G>A
NM_001374085.1:c.548G>A
NM_001374086.1:c.47G>A
NM_004328.5:c.548G>A
NP_001073335.1:p.Arg183His
NP_001244271.1:p.Arg183His
NP_001244272.1:p.Arg183His
NP_001244273.1:p.Arg183His
NP_001305765.1:p.Arg63His
NP_001307646.1:p.Arg183His
NP_001358372.1:p.Arg183His
NP_001358373.1:p.Arg183His
NP_001358375.1:p.Arg183His
NP_001358376.1:p.Arg183His
NP_001358377.1:p.Arg183His
NP_001358378.1:p.Arg183His
NP_001358379.1:p.Arg183His
NP_001358380.1:p.Arg63His
NP_001358381.1:p.Arg16His
NP_001358382.1:p.Arg16His
NP_001358383.1:p.Arg16His
NP_001358384.1:p.Arg16His
NP_001358385.1:p.Arg16His
NP_001361014.1:p.Arg183His
NP_001361015.1:p.Arg16His
NP_004319.1:p.Arg183His
NP_004319.1:p.Arg183His
LRG_539t1:c.548G>A
LRG_539:g.7191G>A
LRG_539p1:p.Arg183His
NC_000002.11:g.219526569G>A
NM_001257342.2:c.548G>A
NM_004328.4:c.548G>A
NR_163955.1:n.1560G>A
Q9Y276:p.Arg183His

Protein change:

R16H; ARG183HIS

Links:

UniProtKB: Q9Y276#VAR_032089; OMIM: 603647.0008; dbSNP: rs121908577

NCBI 1000 Genomes Browser:

rs121908577

Molecular consequence:

NM_001079866.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001257342.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001257343.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001257344.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001318836.2:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001320717.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371443.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371444.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371446.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371447.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371448.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371449.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371450.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371451.1:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371452.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371453.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371454.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371455.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371456.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374085.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374086.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004328.5:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_163955.1:n.1560G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Pili torti-deafness syndrome (BJS)
Synonyms:: Bjornstad syndrome; Pili torti and nerve deafness; Pili torti-sensorineural hearing loss; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009872; MedGen: C0266006; Orphanet: 123; OMIM: 262000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026728	OMIM	no assertion criteria provided	Pathogenic (Feb 22, 2007)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 9545407, 17314340
SCV004210788	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 24, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026728

OMIM

no assertion criteria provided

Pathogenic
(Feb 22, 2007)

germline

literature only

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

SCV004210788

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 24, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000026728.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004210788.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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