NM_004328.4(BCS1L):c.112C>G (p.Leu38Val) AND GRACILE syndrome

Clinical significance:Uncertain significance (Last evaluated: Jun 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:
RCV000402322.1

Allele description [Variation Report for NM_004328.4(BCS1L):c.112C>G (p.Leu38Val)]

NM_004328.4(BCS1L):c.112C>G (p.Leu38Val)

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.112C>G (p.Leu38Val)
HGVS:
  • NC_000002.12:g.218661099C>G
  • NG_008018.1:g.6444C>G
  • NM_001257344.1:c.112C>G
  • NM_001318836.1:c.-40-307C>G
  • NM_004328.4:c.112C>G
  • NP_001244273.1:p.Leu38Val
  • NP_004319.1:p.Leu38Val
  • LRG_539t1:c.112C>G
  • LRG_539t2:c.112C>G
  • LRG_539:g.6444C>G
  • LRG_539p1:p.Leu38Val
  • LRG_539p2:p.Leu38Val
  • NC_000002.11:g.219525822C>G
Protein change:
L38V
Links:
dbSNP: rs886055626
NCBI 1000 Genomes Browser:
rs886055626
Molecular consequence:
  • NM_001318836.1:c.-40-307C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004328.4:c.112C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000427425Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000427425.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
2not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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