NM_004328.4(BCS1L):c.871C>T (p.Arg291Ter) AND GRACILE syndrome

Clinical significance:Likely pathogenic (Last evaluated: Apr 11, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000675151.1

Allele description [Variation Report for NM_004328.4(BCS1L):c.871C>T (p.Arg291Ter)]

NM_004328.4(BCS1L):c.871C>T (p.Arg291Ter)

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_004328.4(BCS1L):c.871C>T (p.Arg291Ter)
Other names:
p.R291*:CGA>TGA
HGVS:
  • NC_000002.12:g.218662661C>T
  • NG_008018.1:g.8006C>T
  • NM_001079866.1:c.871C>T
  • NM_001257344.1:c.871C>T
  • NM_004328.4:c.871C>T
  • NP_001073335.1:p.Arg291Ter
  • NP_001244273.1:p.Arg291Ter
  • NP_004319.1:p.Arg291Ter
  • LRG_539t1:c.871C>T
  • LRG_539t2:c.871C>T
  • LRG_539:g.8006C>T
  • LRG_539p1:p.Arg291Ter
  • LRG_539p2:p.Arg291Ter
  • NC_000002.11:g.219527384C>T
Protein change:
R291*
Links:
dbSNP: rs201454788
NCBI 1000 Genomes Browser:
rs201454788
Molecular consequence:
  • NM_004328.4:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
GRACILE syndrome (FLNMS)
Identifiers:
MedGen: C1864002; Orphanet: 53693; OMIM: 603358

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000800755Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 11, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000800755.1

#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: Apr 17, 2019

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