NM_004328.4(BCS1L):c.598C>T (p.Arg200Ter) AND GRACILE syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jan 5, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000671925.1

Allele description [Variation Report for NM_004328.4(BCS1L):c.598C>T (p.Arg200Ter)]

NM_004328.4(BCS1L):c.598C>T (p.Arg200Ter)

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.598C>T (p.Arg200Ter)
HGVS:
  • NC_000002.12:g.218661896C>T
  • NG_008018.1:g.7241C>T
  • NM_001257344.1:c.598C>T
  • NM_004328.4:c.598C>T
  • NP_001244273.1:p.Arg200Ter
  • NP_004319.1:p.Arg200Ter
  • LRG_539t1:c.598C>T
  • LRG_539t2:c.598C>T
  • LRG_539:g.7241C>T
  • LRG_539p1:p.Arg200Ter
  • LRG_539p2:p.Arg200Ter
  • NC_000002.11:g.219526619C>T
Protein change:
R200*
Links:
dbSNP: rs776838028
NCBI 1000 Genomes Browser:
rs776838028
Molecular consequence:
  • NM_004328.4:c.598C>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
SCV000796961Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 5, 2018)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR.

N Engl J Med. 2017 Jan 5;376(1):21-31. doi: 10.1056/NEJMoa1516767. Epub 2016 Dec 7.

PubMed [citation]
PMID:
27959697
PMCID:
PMC5335876

Details of each submission

From Counsyl, SCV000796961.1

#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: Apr 17, 2019

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