U.S. flag

An official website of the United States government

NM_001079866.2(BCS1L):c.838C>T (p.Leu280Phe) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 4, 2018
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:
RCV000480400.3

Allele description [Variation Report for NM_001079866.2(BCS1L):c.838C>T (p.Leu280Phe)]

NM_001079866.2(BCS1L):c.838C>T (p.Leu280Phe)

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.838C>T (p.Leu280Phe)
HGVS:
  • NC_000002.12:g.218662628C>T
  • NG_008018.1:g.7973C>T
  • NG_033099.1:g.1913G>A
  • NM_001079866.2:c.838C>TMANE SELECT
  • NM_001257342.2:c.838C>T
  • NM_001257343.2:c.838C>T
  • NM_001257344.2:c.838C>T
  • NM_001318836.2:c.478C>T
  • NM_001320717.2:c.838C>T
  • NM_001371443.1:c.838C>T
  • NM_001371444.1:c.838C>T
  • NM_001371446.1:c.838C>T
  • NM_001371447.1:c.838C>T
  • NM_001371448.1:c.838C>T
  • NM_001371449.1:c.838C>T
  • NM_001371450.1:c.838C>T
  • NM_001371451.1:c.478C>T
  • NM_001371452.1:c.337C>T
  • NM_001371453.1:c.337C>T
  • NM_001371454.1:c.337C>T
  • NM_001371455.1:c.337C>T
  • NM_001371456.1:c.337C>T
  • NM_001374085.1:c.838C>T
  • NM_001374086.1:c.337C>T
  • NM_004328.5:c.838C>T
  • NP_001073335.1:p.Leu280Phe
  • NP_001244271.1:p.Leu280Phe
  • NP_001244272.1:p.Leu280Phe
  • NP_001244273.1:p.Leu280Phe
  • NP_001305765.1:p.Leu160Phe
  • NP_001307646.1:p.Leu280Phe
  • NP_001358372.1:p.Leu280Phe
  • NP_001358373.1:p.Leu280Phe
  • NP_001358375.1:p.Leu280Phe
  • NP_001358376.1:p.Leu280Phe
  • NP_001358377.1:p.Leu280Phe
  • NP_001358378.1:p.Leu280Phe
  • NP_001358379.1:p.Leu280Phe
  • NP_001358380.1:p.Leu160Phe
  • NP_001358381.1:p.Leu113Phe
  • NP_001358382.1:p.Leu113Phe
  • NP_001358383.1:p.Leu113Phe
  • NP_001358384.1:p.Leu113Phe
  • NP_001358385.1:p.Leu113Phe
  • NP_001361014.1:p.Leu280Phe
  • NP_001361015.1:p.Leu113Phe
  • NP_004319.1:p.Leu280Phe
  • NP_004319.1:p.Leu280Phe
  • LRG_539t1:c.838C>T
  • LRG_539:g.7973C>T
  • LRG_539p1:p.Leu280Phe
  • NC_000002.11:g.219527351C>T
  • NM_004328.4:c.838C>T
  • NR_163955.1:n.1845C>T
Protein change:
L113F
Links:
dbSNP: rs1064796486
NCBI 1000 Genomes Browser:
rs1064796486
Molecular consequence:
  • NM_001079866.2:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318836.2:c.478C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371451.1:c.478C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371452.1:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371453.1:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371454.1:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371455.1:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371456.1:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374086.1:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.1845C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000573259GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Sep 4, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000573259.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The L280F variant in the BCS1L gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L280F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The L280F variant is a strong candidate for a pathogenic variant.

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

Last Updated: Apr 23, 2022