NM_001079866.2(BCS1L):c.695del (p.Pro232fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 25, 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:: RCV003044603.3

Allele description [Variation Report for NM_001079866.2(BCS1L):c.695del (p.Pro232fs)]

NM_001079866.2(BCS1L):c.695del (p.Pro232fs)

Gene:

BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001079866.2(BCS1L):c.695del (p.Pro232fs)

HGVS:

NC_000002.12:g.218662236del
NG_008018.1:g.7581del
NG_033099.1:g.2309del
NG_033099.2:g.2391del
NM_001079866.2:c.695delMANE SELECT
NM_001257342.2:c.695del
NM_001257343.2:c.695del
NM_001257344.2:c.695del
NM_001318836.2:c.335del
NM_001320717.2:c.695del
NM_001371443.1:c.695del
NM_001371444.1:c.695del
NM_001371446.1:c.695del
NM_001371447.1:c.695del
NM_001371448.1:c.695del
NM_001371449.1:c.695del
NM_001371450.1:c.695del
NM_001371451.1:c.335del
NM_001371452.1:c.194del
NM_001371453.1:c.194del
NM_001371454.1:c.194del
NM_001371455.1:c.194del
NM_001371456.1:c.194del
NM_001374085.1:c.695del
NM_001374086.1:c.194del
NM_004328.5:c.695del
NP_001073335.1:p.Pro232fs
NP_001244271.1:p.Pro232fs
NP_001244272.1:p.Pro232fs
NP_001244273.1:p.Pro232Leufs
NP_001244273.1:p.Pro232fs
NP_001305765.1:p.Pro112fs
NP_001307646.1:p.Pro232fs
NP_001358372.1:p.Pro232fs
NP_001358373.1:p.Pro232fs
NP_001358375.1:p.Pro232fs
NP_001358376.1:p.Pro232fs
NP_001358377.1:p.Pro232fs
NP_001358378.1:p.Pro232fs
NP_001358379.1:p.Pro232fs
NP_001358380.1:p.Pro112fs
NP_001358381.1:p.Pro65fs
NP_001358382.1:p.Pro65fs
NP_001358383.1:p.Pro65fs
NP_001358384.1:p.Pro65fs
NP_001358385.1:p.Pro65fs
NP_001361014.1:p.Pro232fs
NP_001361015.1:p.Pro65fs
NP_004319.1:p.Pro232Leufs
NP_004319.1:p.Pro232fs
LRG_539t1:c.695del
LRG_539t2:c.695del
LRG_539:g.7581del
LRG_539p1:p.Pro232Leufs
LRG_539p2:p.Pro232Leufs
NC_000002.11:g.219526955del
NC_000002.11:g.219526959del
NM_001257344.1:c.695delC
NM_004328.4:c.695delC
NR_163955.1:n.1707del

Protein change:

P112fs

Molecular consequence:

NM_001079866.2:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257342.2:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257343.2:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257344.2:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318836.2:c.335del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320717.2:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371443.1:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371444.1:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371446.1:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371447.1:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371448.1:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371449.1:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371450.1:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371451.1:c.335del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371452.1:c.194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371453.1:c.194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371454.1:c.194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371455.1:c.194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371456.1:c.194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374085.1:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374086.1:c.194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004328.5:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_163955.1:n.1707del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003347272	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 25, 2022)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 12215968, 17314340, 19162478, 19508421, 22277166, 25895478, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003347272

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 25, 2022)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L.

Am J Hum Genet. 2002 Oct;71(4):863-76. Epub 2002 Sep 5.

PubMed [citation]

PMID:: 12215968
PMCID:: PMC378542

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 (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003347272.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

This sequence change creates a premature translational stop signal (p.Pro232Leufs*23) in the BCS1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCS1L are known to be pathogenic (PMID: 12215968, 17314340, 19162478, 19508421, 22277166, 25895478). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BCS1L-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024

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