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NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) AND GRACILE syndrome

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Apr 11, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000675151.2

Allele description [Variation Report for NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)]

NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)

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.871C>T (p.Arg291Ter)
Other names:
p.R291*:CGA>TGA
HGVS:
  • NC_000002.12:g.218662661C>T
  • NG_008018.1:g.8006C>T
  • NG_033099.1:g.1880G>A
  • NM_001079866.2:c.871C>TMANE SELECT
  • NM_001257342.2:c.871C>T
  • NM_001257343.2:c.871C>T
  • NM_001257344.2:c.871C>T
  • NM_001318836.2:c.511C>T
  • NM_001320717.2:c.871C>T
  • NM_001371443.1:c.871C>T
  • NM_001371444.1:c.871C>T
  • NM_001371446.1:c.871C>T
  • NM_001371447.1:c.871C>T
  • NM_001371448.1:c.871C>T
  • NM_001371449.1:c.871C>T
  • NM_001371450.1:c.871C>T
  • NM_001371451.1:c.511C>T
  • NM_001371452.1:c.370C>T
  • NM_001371453.1:c.370C>T
  • NM_001371454.1:c.370C>T
  • NM_001371455.1:c.370C>T
  • NM_001371456.1:c.370C>T
  • NM_001374085.1:c.871C>T
  • NM_001374086.1:c.370C>T
  • NM_004328.5:c.871C>T
  • NP_001073335.1:p.Arg291Ter
  • NP_001244271.1:p.Arg291Ter
  • NP_001244272.1:p.Arg291Ter
  • NP_001244273.1:p.Arg291Ter
  • NP_001305765.1:p.Arg171Ter
  • NP_001307646.1:p.Arg291Ter
  • NP_001358372.1:p.Arg291Ter
  • NP_001358373.1:p.Arg291Ter
  • NP_001358375.1:p.Arg291Ter
  • NP_001358376.1:p.Arg291Ter
  • NP_001358377.1:p.Arg291Ter
  • NP_001358378.1:p.Arg291Ter
  • NP_001358379.1:p.Arg291Ter
  • NP_001358380.1:p.Arg171Ter
  • NP_001358381.1:p.Arg124Ter
  • NP_001358382.1:p.Arg124Ter
  • NP_001358383.1:p.Arg124Ter
  • NP_001358384.1:p.Arg124Ter
  • NP_001358385.1:p.Arg124Ter
  • NP_001361014.1:p.Arg291Ter
  • NP_001361015.1:p.Arg124Ter
  • NP_004319.1:p.Arg291Ter
  • NP_004319.1:p.Arg291Ter
  • LRG_539t1:c.871C>T
  • LRG_539:g.8006C>T
  • LRG_539p1:p.Arg291Ter
  • NC_000002.11:g.219527384C>T
  • NM_001079866.1:c.871C>T
  • NM_004328.4:c.871C>T
  • NM_004328.5:c.871C>T
  • NR_163955.1:n.1878C>T
Protein change:
R124*
Links:
dbSNP: rs201454788
NCBI 1000 Genomes Browser:
rs201454788
Molecular consequence:
  • NR_163955.1:n.1878C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001079866.2:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257342.2:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257343.2:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257344.2:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318836.2:c.511C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320717.2:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371443.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371444.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371446.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371447.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371448.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371449.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371450.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371451.1:c.511C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371452.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371453.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371454.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371455.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371456.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374085.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374086.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004328.5:c.871C>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
SCV000800755Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Likely pathogenic
(Apr 11, 2017)
unknownclinical testing

Citation Link,

SCV001162936Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Counsyl, SCV000800755.1

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

From Baylor Genetics, SCV001162936.1

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

Last Updated: Jun 17, 2024