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NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter) AND GRACILE syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 2, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000409388.2

Allele description [Variation Report for NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter)]

NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter)

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.349C>T (p.Arg117Ter)
HGVS:
  • NC_000002.12:g.218661434C>T
  • NG_008018.1:g.6779C>T
  • NG_033099.1:g.3107G>A
  • NM_001079866.2:c.349C>TMANE SELECT
  • NM_001257342.2:c.349C>T
  • NM_001257343.2:c.349C>T
  • NM_001257344.2:c.349C>T
  • NM_001318836.2:c.-12C>T
  • NM_001320717.2:c.349C>T
  • NM_001371443.1:c.349C>T
  • NM_001371444.1:c.349C>T
  • NM_001371446.1:c.349C>T
  • NM_001371447.1:c.349C>T
  • NM_001371448.1:c.349C>T
  • NM_001371449.1:c.349C>T
  • NM_001371450.1:c.349C>T
  • NM_001371451.1:c.-12C>T
  • NM_001371452.1:c.-41-325C>T
  • NM_001371453.1:c.-128C>T
  • NM_001371454.1:c.-128C>T
  • NM_001371455.1:c.-128C>T
  • NM_001371456.1:c.-128C>T
  • NM_001374085.1:c.349C>T
  • NM_001374086.1:c.-128C>T
  • NM_004328.5:c.349C>T
  • NP_001073335.1:p.Arg117Ter
  • NP_001244271.1:p.Arg117Ter
  • NP_001244272.1:p.Arg117Ter
  • NP_001244273.1:p.Arg117Ter
  • NP_001307646.1:p.Arg117Ter
  • NP_001358372.1:p.Arg117Ter
  • NP_001358373.1:p.Arg117Ter
  • NP_001358375.1:p.Arg117Ter
  • NP_001358376.1:p.Arg117Ter
  • NP_001358377.1:p.Arg117Ter
  • NP_001358378.1:p.Arg117Ter
  • NP_001358379.1:p.Arg117Ter
  • NP_001361014.1:p.Arg117Ter
  • NP_004319.1:p.Arg117Ter
  • NP_004319.1:p.Arg117Ter
  • LRG_539t1:c.349C>T
  • LRG_539:g.6779C>T
  • LRG_539p1:p.Arg117Ter
  • NC_000002.11:g.219526157C>T
  • NM_004328.4:c.349C>T
  • NR_163955.1:n.1361C>T
Protein change:
R117*
Links:
dbSNP: rs777735526
NCBI 1000 Genomes Browser:
rs777735526
Molecular consequence:
  • NM_001318836.2:c.-12C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371451.1:c.-12C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371453.1:c.-128C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371454.1:c.-128C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371455.1:c.-128C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371456.1:c.-128C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374086.1:c.-128C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371452.1:c.-41-325C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_163955.1:n.1361C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001079866.2:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257342.2:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257343.2:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257344.2:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320717.2:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371443.1:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371444.1:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371446.1:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371447.1:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371448.1:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371449.1:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371450.1:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374085.1:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004328.5:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000485697Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))
Likely pathogenic
(Feb 2, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000485697.2

#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: Jun 17, 2024