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NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met) AND GRACILE syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 16, 2017
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:
RCV000666979.1

Allele description [Variation Report for NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met)]

NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met)

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.413C>T (p.Thr138Met)
HGVS:
  • NC_000002.12:g.218661498C>T
  • NG_008018.1:g.6843C>T
  • NG_033099.1:g.3043G>A
  • NM_001079866.2:c.413C>TMANE SELECT
  • NM_001257342.2:c.413C>T
  • NM_001257343.2:c.413C>T
  • NM_001257344.2:c.413C>T
  • NM_001318836.2:c.53C>T
  • NM_001320717.2:c.413C>T
  • NM_001371443.1:c.413C>T
  • NM_001371444.1:c.413C>T
  • NM_001371446.1:c.413C>T
  • NM_001371447.1:c.413C>T
  • NM_001371448.1:c.413C>T
  • NM_001371449.1:c.413C>T
  • NM_001371450.1:c.413C>T
  • NM_001371451.1:c.53C>T
  • NM_001371452.1:c.-41-261C>T
  • NM_001371453.1:c.-64C>T
  • NM_001371454.1:c.-64C>T
  • NM_001371455.1:c.-64C>T
  • NM_001371456.1:c.-64C>T
  • NM_001374085.1:c.413C>T
  • NM_001374086.1:c.-64C>T
  • NM_004328.5:c.413C>T
  • NP_001073335.1:p.Thr138Met
  • NP_001244271.1:p.Thr138Met
  • NP_001244272.1:p.Thr138Met
  • NP_001244273.1:p.Thr138Met
  • NP_001305765.1:p.Thr18Met
  • NP_001307646.1:p.Thr138Met
  • NP_001358372.1:p.Thr138Met
  • NP_001358373.1:p.Thr138Met
  • NP_001358375.1:p.Thr138Met
  • NP_001358376.1:p.Thr138Met
  • NP_001358377.1:p.Thr138Met
  • NP_001358378.1:p.Thr138Met
  • NP_001358379.1:p.Thr138Met
  • NP_001358380.1:p.Thr18Met
  • NP_001361014.1:p.Thr138Met
  • NP_004319.1:p.Thr138Met
  • NP_004319.1:p.Thr138Met
  • LRG_539t1:c.413C>T
  • LRG_539:g.6843C>T
  • LRG_539p1:p.Thr138Met
  • NC_000002.11:g.219526221C>T
  • NM_004328.4:c.413C>T
  • NR_163955.1:n.1425C>T
Protein change:
T138M
Links:
dbSNP: rs775793638
NCBI 1000 Genomes Browser:
rs775793638
Molecular consequence:
  • NM_001371453.1:c.-64C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371454.1:c.-64C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371455.1:c.-64C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371456.1:c.-64C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374086.1:c.-64C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371452.1:c.-41-261C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001079866.2:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318836.2:c.53C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371451.1:c.53C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.1425C>T - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000791360Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(May 16, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F.

Kidney Int. 2016 Feb;89(2):468-475. doi: 10.1038/ki.2015.317.

PubMed [citation]
PMID:
26489029
PMCID:
PMC4840095

Details of each submission

From Counsyl, SCV000791360.1

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

Last Updated: Feb 14, 2024