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NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) AND GRACILE syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Feb 13, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000670706.3

Allele description [Variation Report for NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys)]

NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys)

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.217C>T (p.Arg73Cys)
HGVS:
  • NC_000002.12:g.218661204C>T
  • NG_008018.1:g.6549C>T
  • NG_033099.1:g.3337G>A
  • NM_001079866.2:c.217C>TMANE SELECT
  • NM_001257342.2:c.217C>T
  • NM_001257343.2:c.217C>T
  • NM_001257344.2:c.217C>T
  • NM_001318836.2:c.-40-202C>T
  • NM_001320717.2:c.217C>T
  • NM_001371443.1:c.217C>T
  • NM_001371444.1:c.217C>T
  • NM_001371446.1:c.217C>T
  • NM_001371447.1:c.217C>T
  • NM_001371448.1:c.217C>T
  • NM_001371449.1:c.217C>T
  • NM_001371450.1:c.217C>T
  • NM_001371451.1:c.-40-202C>T
  • NM_001371452.1:c.-41-555C>T
  • NM_001371453.1:c.-260C>T
  • NM_001371454.1:c.-260C>T
  • NM_001371455.1:c.-260C>T
  • NM_001371456.1:c.-260C>T
  • NM_001374085.1:c.217C>T
  • NM_001374086.1:c.-260C>T
  • NM_004328.5:c.217C>T
  • NP_001073335.1:p.Arg73Cys
  • NP_001244271.1:p.Arg73Cys
  • NP_001244272.1:p.Arg73Cys
  • NP_001244273.1:p.Arg73Cys
  • NP_001307646.1:p.Arg73Cys
  • NP_001358372.1:p.Arg73Cys
  • NP_001358373.1:p.Arg73Cys
  • NP_001358375.1:p.Arg73Cys
  • NP_001358376.1:p.Arg73Cys
  • NP_001358377.1:p.Arg73Cys
  • NP_001358378.1:p.Arg73Cys
  • NP_001358379.1:p.Arg73Cys
  • NP_001361014.1:p.Arg73Cys
  • NP_004319.1:p.Arg73Cys
  • NP_004319.1:p.Arg73Cys
  • LRG_539t1:c.217C>T
  • LRG_539:g.6549C>T
  • LRG_539p1:p.Arg73Cys
  • NC_000002.11:g.219525927C>T
  • NM_004328.4:c.217C>T
  • NR_163955.1:n.1229C>T
Protein change:
R73C
Links:
dbSNP: rs140812286
NCBI 1000 Genomes Browser:
rs140812286
Molecular consequence:
  • NM_001371453.1:c.-260C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371454.1:c.-260C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371455.1:c.-260C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371456.1:c.-260C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374086.1:c.-260C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001318836.2:c.-40-202C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371451.1:c.-40-202C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371452.1:c.-41-555C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001079866.2:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.1229C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
GRACILE syndrome (FLNMS)
Synonyms:
Finnish lactic acidosis with hepatic hemosiderosis; Fellman syndrome; Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011308; MedGen: C1864002; Orphanet: 53693; OMIM: 603358

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000795597Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Uncertain significance
(Nov 9, 2017)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV005049418Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Feb 13, 2024)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M.

Hum Mol Genet. 2007 May 15;16(10):1241-52. Epub 2007 Apr 2.

PubMed [citation]
PMID:
17403714

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Counsyl, SCV000795597.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV005049418.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024