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NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter) AND GRACILE syndrome

Clinical significance:Likely pathogenic (Last evaluated: Aug 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409533.1

Allele description [Variation Report for NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)]

NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)

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.556C>T (p.Arg186Ter)
HGVS:
  • NC_000002.12:g.218661854C>T
  • NG_008018.1:g.7199C>T
  • NG_033099.1:g.2687G>A
  • NM_001079866.2:c.556C>TMANE SELECT
  • NM_001257342.2:c.556C>T
  • NM_001257343.2:c.556C>T
  • NM_001257344.2:c.556C>T
  • NM_001318836.2:c.196C>T
  • NM_001320717.2:c.556C>T
  • NM_001371443.1:c.556C>T
  • NM_001371444.1:c.556C>T
  • NM_001371446.1:c.556C>T
  • NM_001371447.1:c.556C>T
  • NM_001371448.1:c.556C>T
  • NM_001371449.1:c.556C>T
  • NM_001371450.1:c.556C>T
  • NM_001371451.1:c.196C>T
  • NM_001371452.1:c.55C>T
  • NM_001371453.1:c.55C>T
  • NM_001371454.1:c.55C>T
  • NM_001371455.1:c.55C>T
  • NM_001371456.1:c.55C>T
  • NM_001374085.1:c.556C>T
  • NM_001374086.1:c.55C>T
  • NM_004328.5:c.556C>T
  • NP_001073335.1:p.Arg186Ter
  • NP_001244271.1:p.Arg186Ter
  • NP_001244272.1:p.Arg186Ter
  • NP_001244273.1:p.Arg186Ter
  • NP_001305765.1:p.Arg66Ter
  • NP_001307646.1:p.Arg186Ter
  • NP_001358372.1:p.Arg186Ter
  • NP_001358373.1:p.Arg186Ter
  • NP_001358375.1:p.Arg186Ter
  • NP_001358376.1:p.Arg186Ter
  • NP_001358377.1:p.Arg186Ter
  • NP_001358378.1:p.Arg186Ter
  • NP_001358379.1:p.Arg186Ter
  • NP_001358380.1:p.Arg66Ter
  • NP_001358381.1:p.Arg19Ter
  • NP_001358382.1:p.Arg19Ter
  • NP_001358383.1:p.Arg19Ter
  • NP_001358384.1:p.Arg19Ter
  • NP_001358385.1:p.Arg19Ter
  • NP_001361014.1:p.Arg186Ter
  • NP_001361015.1:p.Arg19Ter
  • NP_004319.1:p.Arg186Ter
  • NP_004319.1:p.Arg186Ter
  • LRG_539t1:c.556C>T
  • LRG_539:g.7199C>T
  • LRG_539p1:p.Arg186Ter
  • NC_000002.11:g.219526577C>T
  • NM_004328.4:c.556C>T
  • NR_163955.1:n.1568C>T
Protein change:
R186*
Links:
dbSNP: rs779331797
NCBI 1000 Genomes Browser:
rs779331797
Molecular consequence:
  • NR_163955.1:n.1568C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001079866.2:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257342.2:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257343.2:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257344.2:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318836.2:c.196C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320717.2:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371443.1:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371444.1:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371446.1:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371447.1:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371448.1:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371449.1:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371450.1:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371451.1:c.196C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371452.1:c.55C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371453.1:c.55C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371454.1:c.55C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371455.1:c.55C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371456.1:c.55C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374085.1:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374086.1:c.55C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004328.5:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000486785Counsylcriteria provided, single submitter
Likely pathogenic
(Aug 14, 2016)
unknownclinical testing

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

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

Zhang J, Duo L, Lin Z, Wang H, Yin J, Cao X, Zhao J, Dai L, Liu X, Zhang J, Yang Y, Tang Z.

Gene. 2015 Jul 15;566(1):84-8. doi: 10.1016/j.gene.2015.04.039. Epub 2015 Apr 18.

PubMed [citation]
PMID:
25895478

Details of each submission

From Counsyl, SCV000486785.1

#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: Aug 23, 2022

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