NM_004328.4(BCS1L):c.973dupC (p.Arg325Profs) AND GRACILE syndrome

Clinical significance:Likely pathogenic (Last evaluated: Feb 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412303.1

Allele description [Variation Report for NM_004328.4(BCS1L):c.973dupC (p.Arg325Profs)]

NM_004328.4(BCS1L):c.973dupC (p.Arg325Profs)

Gene:
BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_004328.4(BCS1L):c.973dupC (p.Arg325Profs)
HGVS:
  • NC_000002.12:g.218662966dupC
  • NG_008018.1:g.8311dup
  • NM_001257344.1:c.973dup
  • NM_004328.4:c.973dupC
  • NP_001244273.1:p.Arg325Profs
  • NP_004319.1:p.Arg325Profs
  • LRG_539t1:c.973dup
  • LRG_539t2:c.973dup
  • LRG_539:g.8311dup
  • LRG_539p1:p.Arg325Profs
  • LRG_539p2:p.Arg325Profs
  • NC_000002.11:g.219527689dupC
Links:
dbSNP: rs1057516518
NCBI 1000 Genomes Browser:
rs1057516518
Molecular consequence:
  • NM_004328.4:c.973dupC - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000485811Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 18, 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

Functional analysis of yeast bcs1 mutants highlights the role of Bcs1p-specific amino acids in the AAA domain.

Nouet C, Truan G, Mathieu L, Dujardin G.

J Mol Biol. 2009 May 1;388(2):252-61. doi: 10.1016/j.jmb.2009.03.018. Epub 2009 Mar 13.

PubMed [citation]
PMID:
19285991

Details of each submission

From Counsyl, SCV000485811.1

#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: Mar 30, 2019

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