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NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) AND GRACILE syndrome

Clinical significance:Pathogenic (Last evaluated: Jul 6, 2021)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001835622.1

Allele description [Variation Report for NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)]

NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)

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_001079866.2(BCS1L):c.548G>A (p.Arg183His)
HGVS:
  • NC_000002.12:g.218661846G>A
  • NG_008018.1:g.7191G>A
  • NG_033099.1:g.2695C>T
  • NM_001079866.2:c.548G>AMANE SELECT
  • NM_001257342.2:c.548G>A
  • NM_001257343.2:c.548G>A
  • NM_001257344.2:c.548G>A
  • NM_001318836.2:c.188G>A
  • NM_001320717.2:c.548G>A
  • NM_001371443.1:c.548G>A
  • NM_001371444.1:c.548G>A
  • NM_001371446.1:c.548G>A
  • NM_001371447.1:c.548G>A
  • NM_001371448.1:c.548G>A
  • NM_001371449.1:c.548G>A
  • NM_001371450.1:c.548G>A
  • NM_001371451.1:c.188G>A
  • NM_001371452.1:c.47G>A
  • NM_001371453.1:c.47G>A
  • NM_001371454.1:c.47G>A
  • NM_001371455.1:c.47G>A
  • NM_001371456.1:c.47G>A
  • NM_001374085.1:c.548G>A
  • NM_001374086.1:c.47G>A
  • NM_004328.5:c.548G>A
  • NP_001073335.1:p.Arg183His
  • NP_001244271.1:p.Arg183His
  • NP_001244272.1:p.Arg183His
  • NP_001244273.1:p.Arg183His
  • NP_001305765.1:p.Arg63His
  • NP_001307646.1:p.Arg183His
  • NP_001358372.1:p.Arg183His
  • NP_001358373.1:p.Arg183His
  • NP_001358375.1:p.Arg183His
  • NP_001358376.1:p.Arg183His
  • NP_001358377.1:p.Arg183His
  • NP_001358378.1:p.Arg183His
  • NP_001358379.1:p.Arg183His
  • NP_001358380.1:p.Arg63His
  • NP_001358381.1:p.Arg16His
  • NP_001358382.1:p.Arg16His
  • NP_001358383.1:p.Arg16His
  • NP_001358384.1:p.Arg16His
  • NP_001358385.1:p.Arg16His
  • NP_001361014.1:p.Arg183His
  • NP_001361015.1:p.Arg16His
  • NP_004319.1:p.Arg183His
  • NP_004319.1:p.Arg183His
  • LRG_539t1:c.548G>A
  • LRG_539:g.7191G>A
  • LRG_539p1:p.Arg183His
  • NC_000002.11:g.219526569G>A
  • NM_004328.4:c.548G>A
  • NR_163955.1:n.1560G>A
  • Q9Y276:p.Arg183His
Protein change:
R16H; ARG183HIS
Links:
UniProtKB: Q9Y276#VAR_032089; OMIM: 603647.0008; dbSNP: rs121908577
NCBI 1000 Genomes Browser:
rs121908577
Molecular consequence:
  • NM_001079866.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318836.2:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371451.1:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371452.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371453.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371454.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371455.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371456.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374086.1:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.1560G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
GRACILE syndrome (FLNMS)
Synonyms:
Finnish lactic acidosis with hepatic hemosiderosis; Fellman syndrome; Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011308; MedGen: C1864002; Orphanet: 53693; OMIM: 603358

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002076351Natera, Inc.no assertion criteria providedPathogenic
(Jul 6, 2021)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002076351.1

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

Last Updated: Jun 24, 2022

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