NM_006294.5(UQCRB):c.274del (p.Glu92fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 29, 2013
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:: RCV000198622.1

Allele description [Variation Report for NM_006294.5(UQCRB):c.274del (p.Glu92fs)]

NM_006294.5(UQCRB):c.274del (p.Glu92fs)

Gene:

UQCRB:ubiquinol-cytochrome c reductase binding protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8q22.1

Genomic location:

Preferred name:

NM_006294.5(UQCRB):c.274del (p.Glu92fs)

HGVS:

NC_000008.11:g.96231117del
NG_008237.1:g.9518del
NG_008237.2:g.9416del
NM_001199975.3:c.178del
NM_001254752.2:c.411del
NM_006294.5:c.274delMANE SELECT
NP_001186904.1:p.Glu60fs
NP_001241681.1:p.Asn138fs
NP_006285.1:p.Glu92fs
NC_000008.10:g.97243345del
NM_006294.3:c.274delG
NR_045639.2:n.579del
p.E92Nfsx4

Protein change:

E60fs

Links:

dbSNP: rs863224259

NCBI 1000 Genomes Browser:

rs863224259

Molecular consequence:

NM_001199975.3:c.178del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001254752.2:c.411del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006294.5:c.274del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_045639.2:n.579del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000252472	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jul 29, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000252472

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jul 29, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000252472.3

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

Description

c.274delG: p.Glu92AsnfsX4 (E92Nfsx4) in exon 4 of the UQCRB gene (NM_006294.3). The normal sequence with the base that is deleted in braces is: CCTT{delG}AACC. The c.274delG mutation in the UQCRB gene causes a frameshift starting with codon Glutamic acid 92, changes this amino acid to an Asparagine residue and creates a Stop codon at position 3 of the new reading frame, denoted p.Glu93AsnfsX4. This mutation is predicted to cause loss of normal protein function through protein truncation. Although this mutation has not been previously reported to our knowledge, it is considered to be a disease-causing mutation. The variant is found in MITONUC-MITOP panel(s).

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

Last Updated: Apr 23, 2022

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