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NM_001079866.2(BCS1L):c.-50+405A>G AND GRACILE syndrome

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1); Uncertain significance(1) (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000668517.3

Allele description [Variation Report for NM_001079866.2(BCS1L):c.-50+405A>G]

NM_001079866.2(BCS1L):c.-50+405A>G

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.-50+405A>G
HGVS:
  • NC_000002.12:g.218660148A>G
  • NG_008018.1:g.5493A>G
  • NG_033099.1:g.4393T>C
  • NM_001079866.2:c.-50+405A>GMANE SELECT
  • NM_001257342.2:c.-68A>G
  • NM_001257343.2:c.-120A>G
  • NM_001257344.2:c.-50+348A>G
  • NM_001318836.2:c.-41+405A>G
  • NM_001320717.2:c.-164-159A>G
  • NM_001371443.1:c.-164-159A>G
  • NM_001371444.1:c.-323A>G
  • NM_001371446.1:c.-650A>G
  • NM_001371447.1:c.-32+405A>G
  • NM_001371448.1:c.-164-159A>G
  • NM_001371449.1:c.-235A>G
  • NM_001371450.1:c.-323A>G
  • NM_001371451.1:c.-641A>G
  • NM_001371452.1:c.-42+405A>G
  • NM_001371453.1:c.-1316A>G
  • NM_001371454.1:c.-799A>G
  • NM_001371455.1:c.-526+405A>G
  • NM_001371456.1:c.-544A>G
  • NM_001374085.1:c.-840A>G
  • NM_001374086.1:c.-1316A>G
  • NM_004328.5:c.-147A>G
  • LRG_539t1:c.-147A>G
  • LRG_539:g.5493A>G
  • NC_000002.11:g.219524871A>G
  • NM_004328.4:c.-147A>G
  • NR_163955.1:n.173A>G
Links:
dbSNP: rs898301590
NCBI 1000 Genomes Browser:
rs898301590
Molecular consequence:
  • NM_001257342.2:c.-68A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001257343.2:c.-120A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371444.1:c.-323A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371446.1:c.-650A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371449.1:c.-235A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371450.1:c.-323A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371451.1:c.-641A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371453.1:c.-1316A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371454.1:c.-799A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371456.1:c.-544A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374085.1:c.-840A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374086.1:c.-1316A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004328.5:c.-147A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001079866.2:c.-50+405A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257344.2:c.-50+348A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318836.2:c.-41+405A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001320717.2:c.-164-159A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371443.1:c.-164-159A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371447.1:c.-32+405A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371448.1:c.-164-159A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371452.1:c.-42+405A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371455.1:c.-526+405A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_163955.1:n.173A>G - 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
SCV000793135Counsylcriteria provided, single submitter
Uncertain significance
(Jul 28, 2017)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV001136212Mendelicscriteria provided, single submitter
Likely pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

Gil-Borlado MC, González-Hoyuela M, Blázquez A, García-Silva MT, Gabaldón T, Manzanares J, Vara J, Martín MA, Seneca S, Arenas J, Ugalde C.

Mitochondrion. 2009 Sep;9(5):299-305. doi: 10.1016/j.mito.2009.04.001. Epub 2009 Apr 21.

PubMed [citation]
PMID:
19389488

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.

Bick D, Fraser PC, Gutzeit MF, Harris JM, Hambuch TM, Helbling DC, Jacob HJ, Kersten JN, Leuthner SR, May T, North PE, Prisco SZ, Schuler BA, Shimoyama M, Strong KA, Van Why SK, Veith R, Verbsky J, Weborg AM Jr, Wilk BM, Willoughby RE Jr, Worthey EA, et al.

J Pediatr Genet. 2017 Jun;6(2):61-76. doi: 10.1055/s-0036-1593968. Epub 2016 Nov 28.

PubMed [citation]
PMID:
28496993
PMCID:
PMC5423809

Details of each submission

From Counsyl, SCV000793135.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001136212.1

#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 23, 2022

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