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NM_001079866.2(BCS1L):c.399del (p.Glu133fs) AND GRACILE syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 15, 2020)

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:
RCV001825516.1

Allele description [Variation Report for NM_001079866.2(BCS1L):c.399del (p.Glu133fs)]

NM_001079866.2(BCS1L):c.399del (p.Glu133fs)

Gene:
BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001079866.2(BCS1L):c.399del (p.Glu133fs)
HGVS:
  • NC_000002.12:g.218661484del
  • NG_008018.1:g.6829del
  • NG_033099.1:g.3058del
  • NM_001079866.2:c.399delMANE SELECT
  • NM_001257342.2:c.399del
  • NM_001257343.2:c.399del
  • NM_001257344.2:c.399del
  • NM_001318836.2:c.39del
  • NM_001320717.2:c.399del
  • NM_001371443.1:c.399del
  • NM_001371444.1:c.399del
  • NM_001371446.1:c.399del
  • NM_001371447.1:c.399del
  • NM_001371448.1:c.399del
  • NM_001371449.1:c.399del
  • NM_001371450.1:c.399del
  • NM_001371451.1:c.39del
  • NM_001371452.1:c.-41-275del
  • NM_001371453.1:c.-78del
  • NM_001371454.1:c.-78del
  • NM_001371455.1:c.-78del
  • NM_001371456.1:c.-78del
  • NM_001374085.1:c.399del
  • NM_001374086.1:c.-78del
  • NM_004328.5:c.399del
  • NP_001073335.1:p.Glu133fs
  • NP_001244271.1:p.Glu133fs
  • NP_001244272.1:p.Glu133fs
  • NP_001244273.1:p.Glu133fs
  • NP_001305765.1:p.Glu13fs
  • NP_001307646.1:p.Glu133fs
  • NP_001358372.1:p.Glu133fs
  • NP_001358373.1:p.Glu133fs
  • NP_001358375.1:p.Glu133fs
  • NP_001358376.1:p.Glu133fs
  • NP_001358377.1:p.Glu133fs
  • NP_001358378.1:p.Glu133fs
  • NP_001358379.1:p.Glu133fs
  • NP_001358380.1:p.Glu13fs
  • NP_001361014.1:p.Glu133fs
  • NP_004319.1:p.Glu133fs
  • LRG_539t1:c.399del
  • LRG_539:g.6829del
  • NC_000002.11:g.219526206del
  • NC_000002.11:g.219526207del
  • NM_004328.4:c.399del
  • NM_004328.4:c.399delA
  • NR_163955.1:n.1411del
Protein change:
E133fs
Links:
dbSNP: rs751484879
NCBI 1000 Genomes Browser:
rs751484879
Molecular consequence:
  • NM_001371453.1:c.-78del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371454.1:c.-78del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371455.1:c.-78del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371456.1:c.-78del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374086.1:c.-78del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001079866.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257342.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257343.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257344.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318836.2:c.39del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320717.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371443.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371444.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371446.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371447.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371448.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371449.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371450.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371451.1:c.39del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374085.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004328.5:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371452.1:c.-41-275del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_163955.1:n.1411del - 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
SCV002076349Natera, Inc.no assertion criteria providedPathogenic
(Dec 15, 2020)
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., SCV002076349.1

#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: Apr 23, 2022

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