NM_001370658.1(BTD):c.1312dup (p.Cys438fs) AND Biotinidase deficiency

Clinical significance:Pathogenic (Last evaluated: Feb 17, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000144062.2

Allele description [Variation Report for NM_001370658.1(BTD):c.1312dup (p.Cys438fs)]

NM_001370658.1(BTD):c.1312dup (p.Cys438fs)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1312dup (p.Cys438fs)
HGVS:
  • NC_000003.12:g.15645228dup
  • NG_008019.1:g.48481dup
  • NG_008019.2:g.48877dup
  • NM_001281723.3:c.1312dup
  • NM_001281724.3:c.1312dup
  • NM_001281725.2:c.1312dup
  • NM_001323582.1:c.1312dup
  • NM_001370658.1:c.1312dupMANE SELECT
  • NM_001370752.1:c.1015+297dup
  • NM_001370753.1:c.399+3171dup
  • NP_001268652.2:p.Cys438fs
  • NP_001268653.2:p.Cys438fs
  • NP_001268654.1:p.Cys438fs
  • NP_001310511.1:p.Cys438fs
  • NP_001357587.1:p.Cys438fs
  • NC_000003.11:g.15686735dup
Protein change:
C438fs
Links:
dbSNP: rs587783007
NCBI 1000 Genomes Browser:
rs587783007
Molecular consequence:
  • NM_001281723.3:c.1312dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281724.3:c.1312dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281725.2:c.1312dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323582.1:c.1312dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370658.1:c.1312dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370752.1:c.1015+297dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3171dup - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Biotinidase deficiency
Synonyms:
BTD deficiency; Late-onset biotin-responsive multiple carboxylase deficiency; Biotin deficiency
Identifiers:
MONDO: MONDO:0009665; MedGen: C0220754; Orphanet: 79241; OMIM: 253260

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000189135Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratoriesno assertion criteria providedPathogenicgermlineclinical testing

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

SCV000845831Research and Development, ARUP Laboratoriesno assertion criteria providedPathogenic
(Feb 17, 2017)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedliterature only
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.

Li H, Spencer L, Nahhas F, Miller J, Fribley A, Feldman G, Conway R, Wolf B.

Mol Genet Metab. 2014 Jul;112(3):242-6. doi: 10.1016/j.ymgme.2014.04.002. Epub 2014 Apr 16.

PubMed [citation]
PMID:
24797656

Details of each submission

From Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories, SCV000189135.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Research and Development, ARUP Laboratories, SCV000845831.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Enzyme activity @ 2.0 U/L. Seen with c.968A>G;p.H323R.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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