NM_001079866.2(BCS1L):c.1070C>A (p.Ser357Ter) AND Pili torti-deafness syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 16, 2022
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:: RCV003474352.1

Allele description [Variation Report for NM_001079866.2(BCS1L):c.1070C>A (p.Ser357Ter)]

NM_001079866.2(BCS1L):c.1070C>A (p.Ser357Ter)

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.1070C>A (p.Ser357Ter)

HGVS:

NC_000002.12:g.218663196C>A
NG_008018.1:g.8541C>A
NG_033099.1:g.1345G>T
NG_033099.2:g.1427G>T
NM_001079866.2:c.1070C>AMANE SELECT
NM_001257342.2:c.1070C>A
NM_001257343.2:c.1070C>A
NM_001257344.2:c.1070C>A
NM_001318836.2:c.710C>A
NM_001320717.2:c.1070C>A
NM_001371443.1:c.1070C>A
NM_001371444.1:c.1070C>A
NM_001371446.1:c.1070C>A
NM_001371447.1:c.1070C>A
NM_001371448.1:c.1070C>A
NM_001371449.1:c.1070C>A
NM_001371450.1:c.1070C>A
NM_001371451.1:c.710C>A
NM_001371452.1:c.569C>A
NM_001371453.1:c.569C>A
NM_001371454.1:c.569C>A
NM_001371455.1:c.569C>A
NM_001371456.1:c.569C>A
NM_001374085.1:c.1070C>A
NM_001374086.1:c.569C>A
NM_004328.5:c.1070C>A
NP_001073335.1:p.Ser357Ter
NP_001244271.1:p.Ser357Ter
NP_001244272.1:p.Ser357Ter
NP_001244273.1:p.Ser357Ter
NP_001244273.1:p.Ser357Ter
NP_001305765.1:p.Ser237Ter
NP_001307646.1:p.Ser357Ter
NP_001358372.1:p.Ser357Ter
NP_001358373.1:p.Ser357Ter
NP_001358375.1:p.Ser357Ter
NP_001358376.1:p.Ser357Ter
NP_001358377.1:p.Ser357Ter
NP_001358378.1:p.Ser357Ter
NP_001358379.1:p.Ser357Ter
NP_001358380.1:p.Ser237Ter
NP_001358381.1:p.Ser190Ter
NP_001358382.1:p.Ser190Ter
NP_001358383.1:p.Ser190Ter
NP_001358384.1:p.Ser190Ter
NP_001358385.1:p.Ser190Ter
NP_001361014.1:p.Ser357Ter
NP_001361015.1:p.Ser190Ter
NP_004319.1:p.Ser357Ter
NP_004319.1:p.Ser357Ter
LRG_539t1:c.1070C>A
LRG_539t2:c.1070C>A
LRG_539:g.8541C>A
LRG_539p1:p.Ser357Ter
LRG_539p2:p.Ser357Ter
NC_000002.11:g.219527919C>A
NM_001257344.1:c.1070C>A
NM_004328.4:c.1070C>A
NR_163955.1:n.2077C>A

Protein change:

S190*

Molecular consequence:

NR_163955.1:n.2077C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001079866.2:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001257342.2:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001257343.2:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001257344.2:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001318836.2:c.710C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001320717.2:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001371443.1:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001371444.1:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001371446.1:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001371447.1:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001371448.1:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001371449.1:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001371450.1:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001371451.1:c.710C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001371452.1:c.569C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001371453.1:c.569C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001371454.1:c.569C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001371455.1:c.569C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001371456.1:c.569C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001374085.1:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001374086.1:c.569C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_004328.5:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

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RecName: Full=Diacylglycerol kinase epsilon; Short=DAG kinase epsilon; AltName: ...
RecName: Full=Diacylglycerol kinase epsilon; Short=DAG kinase epsilon; AltName: Full=Diglyceride kinase epsilon; Short=DGK-epsilon
gi|20138780|sp|Q9R1C6.1|DGKE_MOUSE

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004210828	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 16, 2022)	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

SCV004210828

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 16, 2022)

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004210828.1

#	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: Dec 30, 2023

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