NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs) AND Biotinidase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Mar 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000673413.1

Allele description [Variation Report for NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)]

NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)
HGVS:
  • NC_000003.12:g.15644505_15644507delinsAGTA
  • NG_008019.1:g.47758_47760delinsAGTA
  • NG_008019.2:g.48154_48156delinsAGTA
  • NM_001281723.3:c.589_591delinsAGTA
  • NM_001281724.3:c.589_591delinsAGTA
  • NM_001281725.2:c.589_591delinsAGTA
  • NM_001323582.1:c.589_591delinsAGTA
  • NM_001370658.1:c.589_591delinsAGTAMANE SELECT
  • NM_001370752.1:c.589_591delinsAGTA
  • NM_001370753.1:c.399+2448_399+2450delinsAGTA
  • NP_001268652.2:p.Phe197fs
  • NP_001268653.2:p.Phe197fs
  • NP_001268654.1:p.Phe197fs
  • NP_001310511.1:p.Phe197fs
  • NP_001357587.1:p.Phe197fs
  • NP_001357681.1:p.Phe197fs
  • NC_000003.11:g.15686012_15686014delinsAGTA
Protein change:
F197fs
Links:
dbSNP: rs1553653732
NCBI 1000 Genomes Browser:
rs1553653732
Molecular consequence:
  • NM_001281723.3:c.589_591delinsAGTA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281724.3:c.589_591delinsAGTA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281725.2:c.589_591delinsAGTA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323582.1:c.589_591delinsAGTA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370658.1:c.589_591delinsAGTA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370752.1:c.589_591delinsAGTA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370753.1:c.399+2448_399+2450delinsAGTA - 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
SCV000798613Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 16, 2018)
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, SCV000798613.1

#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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