NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs) AND Biotinidase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Oct 5, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000669535.1

Allele description [Variation Report for NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)]

NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)
HGVS:
  • NC_000003.12:g.15645312_15645331del
  • NG_008019.1:g.48565_48584del
  • NG_008019.2:g.48961_48980del
  • NM_001281723.3:c.1396_1415del
  • NM_001281724.3:c.1396_1415del
  • NM_001281725.2:c.1396_1415del
  • NM_001323582.1:c.1396_1415del
  • NM_001370658.1:c.1396_1415delMANE SELECT
  • NM_001370752.1:c.1015+381_1015+400del
  • NM_001370753.1:c.399+3255_399+3274del
  • NP_001268652.2:p.Leu466fs
  • NP_001268653.2:p.Leu466fs
  • NP_001268654.1:p.Leu466fs
  • NP_001310511.1:p.Leu466fs
  • NP_001357587.1:p.Leu466fs
  • NC_000003.11:g.15686819_15686838del
Protein change:
L466fs
Links:
dbSNP: rs1553654178
NCBI 1000 Genomes Browser:
rs1553654178
Molecular consequence:
  • NM_001281723.3:c.1396_1415del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281724.3:c.1396_1415del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281725.2:c.1396_1415del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323582.1:c.1396_1415del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370658.1:c.1396_1415del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370752.1:c.1015+381_1015+400del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3255_399+3274del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000794296Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 5, 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, SCV000794296.1

#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: Oct 7, 2021

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