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NM_001370658.1(BTD):c.58_59del (p.Leu20fs) AND Biotinidase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 3, 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:
RCV000664888.2

Allele description [Variation Report for NM_001370658.1(BTD):c.58_59del (p.Leu20fs)]

NM_001370658.1(BTD):c.58_59del (p.Leu20fs)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.58_59del (p.Leu20fs)
HGVS:
  • NC_000003.12:g.15635497_15635498del
  • NG_008019.2:g.39146_39147del
  • NM_000060.4:c.118_119delCT
  • NM_001281723.4:c.58_59delCT
  • NM_001281724.3:c.58_59del
  • NM_001281725.3:c.58_59delCT
  • NM_001281726.3:c.58_59delCT
  • NM_001323582.2:c.58_59delCT
  • NM_001370658.1:c.58_59delMANE SELECT
  • NM_001370752.1:c.58_59del
  • NM_001370753.1:c.58_59del
  • NM_001407364.1:c.58_59delCT
  • NM_001407365.1:c.58_59delCT
  • NM_001407366.1:c.58_59delCT
  • NM_001407367.1:c.58_59delCT
  • NM_001407368.1:c.58_59delCT
  • NM_001407369.1:c.58_59delCT
  • NM_001407370.1:c.58_59delCT
  • NM_001407371.1:c.58_59delCT
  • NM_001407372.1:c.58_59delCT
  • NM_001407373.1:c.58_59delCT
  • NM_001407374.1:c.58_59delCT
  • NM_001407375.1:c.58_59delCT
  • NM_001407376.1:c.58_59delCT
  • NM_001407377.1:c.58_59delCT
  • NM_001407378.1:c.58_59delCT
  • NM_001407379.1:c.58_59delCT
  • NM_001407380.1:c.58_59delCT
  • NM_001407381.1:c.58_59delCT
  • NM_001407382.1:c.58_59delCT
  • NM_001407383.1:c.58_59delCT
  • NM_001407384.1:c.58_59delCT
  • NM_001407386.1:c.58_59delCT
  • NM_001407388.1:c.58_59delCT
  • NM_001407390.1:c.58_59delCT
  • NM_001407392.1:c.58_59delCT
  • NM_001407394.1:c.58_59delCT
  • NM_001407395.1:c.58_59delCT
  • NM_001407396.1:c.58_59delCT
  • NM_001407397.1:c.58_59delCT
  • NM_001407398.1:c.58_59delCT
  • NM_001407399.1:c.58_59delCT
  • NM_001407400.1:c.58_59delCT
  • NM_001407401.1:c.58_59delCT
  • NP_000051.1:p.Leu40Glyfs
  • NP_001268652.2:p.Leu20Glyfs
  • NP_001268652.2:p.Leu20fs
  • NP_001268653.2:p.Leu20fs
  • NP_001268654.1:p.Leu20Glyfs
  • NP_001268654.1:p.Leu20fs
  • NP_001268655.2:p.Leu20Glyfs
  • NP_001268655.2:p.Leu20fs
  • NP_001310511.1:p.Leu20Glyfs
  • NP_001310511.1:p.Leu20fs
  • NP_001357587.1:p.Leu20fs
  • NP_001357681.1:p.Leu20fs
  • NP_001357682.1:p.Leu20fs
  • NP_001394293.1:p.Leu20Glyfs
  • NP_001394294.1:p.Leu20Glyfs
  • NP_001394295.1:p.Leu20Glyfs
  • NP_001394296.1:p.Leu20Glyfs
  • NP_001394297.1:p.Leu20Glyfs
  • NP_001394298.1:p.Leu20Glyfs
  • NP_001394299.1:p.Leu20Glyfs
  • NP_001394300.1:p.Leu20Glyfs
  • NP_001394301.1:p.Leu20Glyfs
  • NP_001394302.1:p.Leu20Glyfs
  • NP_001394303.1:p.Leu20Glyfs
  • NP_001394304.1:p.Leu20Glyfs
  • NP_001394305.1:p.Leu20Glyfs
  • NP_001394306.1:p.Leu20Glyfs
  • NP_001394307.1:p.Leu20Glyfs
  • NP_001394308.1:p.Leu20Glyfs
  • NP_001394309.1:p.Leu20Glyfs
  • NP_001394310.1:p.Leu20Glyfs
  • NP_001394311.1:p.Leu20Glyfs
  • NP_001394312.1:p.Leu20Glyfs
  • NP_001394313.1:p.Leu20Glyfs
  • NP_001394315.1:p.Leu20Glyfs
  • NP_001394317.1:p.Leu20Glyfs
  • NP_001394319.1:p.Leu20Glyfs
  • NP_001394321.1:p.Leu20Glyfs
  • NP_001394323.1:p.Leu20Glyfs
  • NP_001394324.1:p.Leu20Glyfs
  • NP_001394325.1:p.Leu20Glyfs
  • NP_001394326.1:p.Leu20Glyfs
  • NP_001394327.1:p.Leu20Glyfs
  • NP_001394328.1:p.Leu20Glyfs
  • NP_001394329.1:p.Leu20Glyfs
  • NP_001394330.1:p.Leu20Glyfs
  • NC_000003.11:g.15677004_15677005del
  • NM_001281723.3:c.58_59del
  • NM_001281725.2:c.58_59del
  • NM_001281726.2:c.58_59del
  • NM_001323582.1:c.58_59del
Protein change:
L20fs
Links:
dbSNP: rs1553652080
NCBI 1000 Genomes Browser:
rs1553652080
Molecular consequence:
  • NM_000060.4:c.118_119delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281723.4:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281724.3:c.58_59del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281725.3:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281726.3:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323582.2:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370658.1:c.58_59del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370752.1:c.58_59del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370753.1:c.58_59del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407364.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407365.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407366.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407367.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407368.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407369.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407370.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407371.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407372.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407373.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407374.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407375.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407376.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407377.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407378.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407379.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407380.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407381.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407382.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407383.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407384.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407386.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407388.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407390.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407392.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407394.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407395.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407396.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407397.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407398.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407399.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407400.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407401.1:c.58_59delCT - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000788915Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Likely pathogenic
(Jan 3, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000788915.1

#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: Mar 26, 2023