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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000795597	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Nov 9, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV005049418	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 13, 2024)	unknown	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

SCV000795597

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Nov 9, 2017)

unknown

clinical testing

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

Citation Link,

SCV005049418

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 13, 2024)

unknown

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

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

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

From Baylor Genetics, SCV005049418.1

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

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

Last Updated: Oct 20, 2024

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