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NM_001079866.2(BCS1L):c.901T>A (p.Tyr301Asn) AND Pili torti-deafness syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2013)

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:
RCV000114392.2

Allele description [Variation Report for NM_001079866.2(BCS1L):c.901T>A (p.Tyr301Asn)]

NM_001079866.2(BCS1L):c.901T>A (p.Tyr301Asn)

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.901T>A (p.Tyr301Asn)
HGVS:
  • NC_000002.12:g.218662894T>A
  • NG_008018.1:g.8239T>A
  • NG_033099.1:g.1647A>T
  • NM_001079866.2:c.901T>AMANE SELECT
  • NM_001257342.2:c.901T>A
  • NM_001257343.2:c.901T>A
  • NM_001257344.2:c.901T>A
  • NM_001318836.2:c.541T>A
  • NM_001320717.2:c.901T>A
  • NM_001371443.1:c.901T>A
  • NM_001371444.1:c.901T>A
  • NM_001371446.1:c.901T>A
  • NM_001371447.1:c.901T>A
  • NM_001371448.1:c.901T>A
  • NM_001371449.1:c.901T>A
  • NM_001371450.1:c.901T>A
  • NM_001371451.1:c.541T>A
  • NM_001371452.1:c.400T>A
  • NM_001371453.1:c.400T>A
  • NM_001371454.1:c.400T>A
  • NM_001371455.1:c.400T>A
  • NM_001371456.1:c.400T>A
  • NM_001374085.1:c.901T>A
  • NM_001374086.1:c.400T>A
  • NM_004328.5:c.901T>A
  • NP_001073335.1:p.Tyr301Asn
  • NP_001244271.1:p.Tyr301Asn
  • NP_001244272.1:p.Tyr301Asn
  • NP_001244273.1:p.Tyr301Asn
  • NP_001305765.1:p.Tyr181Asn
  • NP_001307646.1:p.Tyr301Asn
  • NP_001358372.1:p.Tyr301Asn
  • NP_001358373.1:p.Tyr301Asn
  • NP_001358375.1:p.Tyr301Asn
  • NP_001358376.1:p.Tyr301Asn
  • NP_001358377.1:p.Tyr301Asn
  • NP_001358378.1:p.Tyr301Asn
  • NP_001358379.1:p.Tyr301Asn
  • NP_001358380.1:p.Tyr181Asn
  • NP_001358381.1:p.Tyr134Asn
  • NP_001358382.1:p.Tyr134Asn
  • NP_001358383.1:p.Tyr134Asn
  • NP_001358384.1:p.Tyr134Asn
  • NP_001358385.1:p.Tyr134Asn
  • NP_001361014.1:p.Tyr301Asn
  • NP_001361015.1:p.Tyr134Asn
  • NP_004319.1:p.Tyr301Asn
  • LRG_539:g.8239T>A
  • NC_000002.11:g.219527617T>A
  • NR_163955.1:n.1908T>A
  • Q9Y276:p.Tyr301Asn
Protein change:
Y134N; TYR301ASN
Links:
UniProtKB: Q9Y276#VAR_072244; OMIM: 603647.0013; dbSNP: rs587777278
NCBI 1000 Genomes Browser:
rs587777278
Molecular consequence:
  • NM_001079866.2:c.901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318836.2:c.541T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371451.1:c.541T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371452.1:c.400T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371453.1:c.400T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371454.1:c.400T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371455.1:c.400T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371456.1:c.400T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374086.1:c.400T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.1908T>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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000148093OMIMno assertion criteria providedPathogenic
(Dec 1, 2013)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

Siddiqi S, Siddiq S, Mansoor A, Oostrik J, Ahmad N, Kazmi SA, Kremer H, Qamar R, Schraders M.

J Hum Genet. 2013 Dec;58(12):819-21. doi: 10.1038/jhg.2013.101. Epub 2013 Oct 31.

PubMed [citation]
PMID:
24172246

Details of each submission

From OMIM, SCV000148093.2

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

Description

In 5 members of a large Pakistani family with Bjornstad syndrome (BJS; 262000), Siddiqi et al. (2013) identified a homozygous c.901T-A transversion in exon 8 of the BCS1L gene, resulting in a tyr301-to-asn (Y301N) substitution in the AAA domain. The mutation, which was found by homozygosity mapping and candidate gene sequencing, segregated with the disorder in the family. It was not found in 137 control individuals or in the 1000 Genomes Project database. The mutation was predicted to change the binding affinity of the AAA domain for other molecules, but functional studies were not performed.

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

Last Updated: Apr 23, 2022

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