NM_004328.4(BCS1L):c.269G>A (p.Arg90His) AND GRACILE syndrome

Clinical significance:Uncertain significance (Last evaluated: Dec 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000671152.1

Allele description [Variation Report for NM_004328.4(BCS1L):c.269G>A (p.Arg90His)]

NM_004328.4(BCS1L):c.269G>A (p.Arg90His)

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.269G>A (p.Arg90His)
Other names:
p.R90H:CGC>CAC
HGVS:
  • NC_000002.12:g.218661256G>A
  • NG_008018.1:g.6601G>A
  • NM_001257344.1:c.269G>A
  • NM_001318836.1:c.-40-150G>A
  • NM_004328.4:c.269G>A
  • NP_001244273.1:p.Arg90His
  • NP_004319.1:p.Arg90His
  • LRG_539t1:c.269G>A
  • LRG_539t2:c.269G>A
  • LRG_539:g.6601G>A
  • LRG_539p1:p.Arg90His
  • LRG_539p2:p.Arg90His
  • NC_000002.11:g.219525979G>A
Protein change:
R90H
Links:
dbSNP: rs747956412
NCBI 1000 Genomes Browser:
rs747956412
Molecular consequence:
  • NM_001318836.1:c.-40-150G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004328.4:c.269G>A - 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
SCV000796102Counsylcriteria provided, single submitter
Uncertain significance
(Dec 1, 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, SCV000796102.1

#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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