NM_001079866.2(BCS1L):c.255_257del (p.Gln85del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 14, 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:: RCV001868262.5

Allele description [Variation Report for NM_001079866.2(BCS1L):c.255_257del (p.Gln85del)]

NM_001079866.2(BCS1L):c.255_257del (p.Gln85del)

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.255_257del (p.Gln85del)

HGVS:

NC_000002.12:g.218661242_218661244del
NG_008018.1:g.6587_6589del
NG_033099.1:g.3299_3301del
NM_001079866.2:c.255_257delMANE SELECT
NM_001257342.2:c.255_257del
NM_001257343.2:c.255_257del
NM_001257344.2:c.255_257del
NM_001318836.2:c.-40-164_-40-162del
NM_001320717.2:c.255_257del
NM_001371443.1:c.255_257del
NM_001371444.1:c.255_257del
NM_001371446.1:c.255_257del
NM_001371447.1:c.255_257del
NM_001371448.1:c.255_257del
NM_001371449.1:c.255_257del
NM_001371450.1:c.255_257del
NM_001371451.1:c.-40-164_-40-162del
NM_001371452.1:c.-41-517_-41-515del
NM_001371453.1:c.-222_-220del
NM_001371454.1:c.-222_-220del
NM_001371455.1:c.-222_-220del
NM_001371456.1:c.-222_-220del
NM_001374085.1:c.255_257del
NM_001374086.1:c.-222_-220del
NM_004328.5:c.255_257del
NP_001073335.1:p.Gln85del
NP_001244271.1:p.Gln85del
NP_001244272.1:p.Gln85del
NP_001244273.1:p.Gln85del
NP_001307646.1:p.Gln85del
NP_001358372.1:p.Gln85del
NP_001358373.1:p.Gln85del
NP_001358375.1:p.Gln85del
NP_001358376.1:p.Gln85del
NP_001358377.1:p.Gln85del
NP_001358378.1:p.Gln85del
NP_001358379.1:p.Gln85del
NP_001361014.1:p.Gln85del
NP_004319.1:p.Gln85del
LRG_539:g.6587_6589del
NC_000002.11:g.219525963_219525965del
NC_000002.11:g.219525965_219525967del
NM_004328.4:c.255_257delGCA
NR_163955.1:n.1267_1269del

Protein change:

Q85del

Links:

dbSNP: rs1553596345

NCBI 1000 Genomes Browser:

rs1553596345

Molecular consequence:

NM_001371453.1:c.-222_-220del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001371454.1:c.-222_-220del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001371455.1:c.-222_-220del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001371456.1:c.-222_-220del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001374086.1:c.-222_-220del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001079866.2:c.255_257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001257342.2:c.255_257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001257343.2:c.255_257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001257344.2:c.255_257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001320717.2:c.255_257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001371443.1:c.255_257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001371444.1:c.255_257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001371446.1:c.255_257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001371447.1:c.255_257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001371448.1:c.255_257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001371449.1:c.255_257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001371450.1:c.255_257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374085.1:c.255_257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004328.5:c.255_257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318836.2:c.-40-164_-40-162del - intron variant - [Sequence Ontology: SO:0001627]
NM_001371451.1:c.-40-164_-40-162del - intron variant - [Sequence Ontology: SO:0001627]
NM_001371452.1:c.-41-517_-41-515del - intron variant - [Sequence Ontology: SO:0001627]
NR_163955.1:n.1267_1269del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002212107	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 14, 2022)	germline	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

SCV002212107

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 14, 2022)

germline

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002212107.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 556141). This variant has not been reported in the literature in individuals affected with BCS1L-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.255_257del, results in the deletion of 1 amino acid(s) of the BCS1L protein (p.Gln85del), but otherwise preserves the integrity of the reading frame.

#	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: Feb 20, 2024

ClinVar

Relating variation to medicine