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NM_001079866.2(BCS1L):c.889+1G>T AND GRACILE syndrome

Clinical significance:Likely pathogenic (Last evaluated: Dec 27, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411192.1

Allele description [Variation Report for NM_001079866.2(BCS1L):c.889+1G>T]

NM_001079866.2(BCS1L):c.889+1G>T

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.889+1G>T
HGVS:
  • NC_000002.12:g.218662680G>T
  • NG_008018.1:g.8025G>T
  • NG_033099.1:g.1861C>A
  • NM_001079866.2:c.889+1G>TMANE SELECT
  • NM_001257342.2:c.889+1G>T
  • NM_001257343.2:c.889+1G>T
  • NM_001257344.2:c.889+1G>T
  • NM_001318836.2:c.529+1G>T
  • NM_001320717.2:c.889+1G>T
  • NM_001371443.1:c.889+1G>T
  • NM_001371444.1:c.889+1G>T
  • NM_001371446.1:c.889+1G>T
  • NM_001371447.1:c.889+1G>T
  • NM_001371448.1:c.889+1G>T
  • NM_001371449.1:c.889+1G>T
  • NM_001371450.1:c.889+1G>T
  • NM_001371451.1:c.529+1G>T
  • NM_001371452.1:c.388+1G>T
  • NM_001371453.1:c.388+1G>T
  • NM_001371454.1:c.388+1G>T
  • NM_001371455.1:c.388+1G>T
  • NM_001371456.1:c.388+1G>T
  • NM_001374085.1:c.889+1G>T
  • NM_001374086.1:c.388+1G>T
  • NM_004328.5:c.889+1G>T
  • LRG_539t1:c.889+1G>T
  • LRG_539:g.8025G>T
  • NC_000002.11:g.219527403G>T
  • NM_004328.4:c.889+1G>T
Links:
dbSNP: rs1057516346
NCBI 1000 Genomes Browser:
rs1057516346
Molecular consequence:
  • NM_001079866.2:c.889+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001257342.2:c.889+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001257343.2:c.889+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001257344.2:c.889+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318836.2:c.529+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001320717.2:c.889+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371443.1:c.889+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371444.1:c.889+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371446.1:c.889+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371447.1:c.889+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371448.1:c.889+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371449.1:c.889+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371450.1:c.889+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371451.1:c.529+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371452.1:c.388+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371453.1:c.388+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371454.1:c.388+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371455.1:c.388+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371456.1:c.388+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374085.1:c.889+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374086.1:c.388+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004328.5:c.889+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000485504Counsylcriteria provided, single submitter
Likely pathogenic
(Dec 27, 2015)
unknownclinical testing

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

Details of each submission

From Counsyl, SCV000485504.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 23, 2022

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