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NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 18, 2023
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:
RCV002512833.4

Allele description [Variation Report for NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)]

NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)

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.548G>A (p.Arg183His)
HGVS:
  • NC_000002.12:g.218661846G>A
  • NG_008018.1:g.7191G>A
  • NG_033099.1:g.2695C>T
  • NM_001079866.2:c.548G>AMANE SELECT
  • NM_001257342.2:c.548G>A
  • NM_001257343.2:c.548G>A
  • NM_001257344.2:c.548G>A
  • NM_001318836.2:c.188G>A
  • NM_001320717.2:c.548G>A
  • NM_001371443.1:c.548G>A
  • NM_001371444.1:c.548G>A
  • NM_001371446.1:c.548G>A
  • NM_001371447.1:c.548G>A
  • NM_001371448.1:c.548G>A
  • NM_001371449.1:c.548G>A
  • NM_001371450.1:c.548G>A
  • NM_001371451.1:c.188G>A
  • NM_001371452.1:c.47G>A
  • NM_001371453.1:c.47G>A
  • NM_001371454.1:c.47G>A
  • NM_001371455.1:c.47G>A
  • NM_001371456.1:c.47G>A
  • NM_001374085.1:c.548G>A
  • NM_001374086.1:c.47G>A
  • NM_004328.5:c.548G>A
  • NP_001073335.1:p.Arg183His
  • NP_001244271.1:p.Arg183His
  • NP_001244272.1:p.Arg183His
  • NP_001244273.1:p.Arg183His
  • NP_001305765.1:p.Arg63His
  • NP_001307646.1:p.Arg183His
  • NP_001358372.1:p.Arg183His
  • NP_001358373.1:p.Arg183His
  • NP_001358375.1:p.Arg183His
  • NP_001358376.1:p.Arg183His
  • NP_001358377.1:p.Arg183His
  • NP_001358378.1:p.Arg183His
  • NP_001358379.1:p.Arg183His
  • NP_001358380.1:p.Arg63His
  • NP_001358381.1:p.Arg16His
  • NP_001358382.1:p.Arg16His
  • NP_001358383.1:p.Arg16His
  • NP_001358384.1:p.Arg16His
  • NP_001358385.1:p.Arg16His
  • NP_001361014.1:p.Arg183His
  • NP_001361015.1:p.Arg16His
  • NP_004319.1:p.Arg183His
  • NP_004319.1:p.Arg183His
  • LRG_539t1:c.548G>A
  • LRG_539:g.7191G>A
  • LRG_539p1:p.Arg183His
  • NC_000002.11:g.219526569G>A
  • NM_001257342.2:c.548G>A
  • NM_004328.4:c.548G>A
  • NR_163955.1:n.1560G>A
  • Q9Y276:p.Arg183His
Protein change:
R16H; ARG183HIS
Links:
UniProtKB: Q9Y276#VAR_032089; OMIM: 603647.0008; dbSNP: rs121908577
NCBI 1000 Genomes Browser:
rs121908577
Molecular consequence:
  • NM_001079866.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318836.2:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371451.1:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371452.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371453.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371454.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371455.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371456.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374086.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.1560G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003524977Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Nov 18, 2023)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

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

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003524977.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 183 of the BCS1L protein (p.Arg183His). This variant is present in population databases (rs121908577, gnomAD 0.007%). This missense change has been observed in individual(s) with Björnstad syndrome (PMID: 17314340). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6170). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BCS1L protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024