U.S. flag

An official website of the United States government

NM_001370658.1(BTD):c.1334dup (p.Leu446fs) AND Biotinidase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 8, 2016
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:
RCV000032023.6

Allele description [Variation Report for NM_001370658.1(BTD):c.1334dup (p.Leu446fs)]

NM_001370658.1(BTD):c.1334dup (p.Leu446fs)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1334dup (p.Leu446fs)
Other names:
L466fs
HGVS:
  • NC_000003.12:g.15645250dup
  • NG_008019.2:g.48899dup
  • NG_008019.3:g.48900dup
  • NM_000060.4:c.1394dup
  • NM_001281723.4:c.1334dup
  • NM_001281724.3:c.1334dup
  • NM_001281725.3:c.1334dup
  • NM_001323582.2:c.1334dup
  • NM_001370658.1:c.1334dupMANE SELECT
  • NM_001370752.1:c.1015+319dup
  • NM_001370753.1:c.399+3193dup
  • NM_001407364.1:c.1334dup
  • NM_001407365.1:c.1334dup
  • NM_001407366.1:c.1334dup
  • NM_001407367.1:c.1334dup
  • NM_001407368.1:c.1334dup
  • NM_001407369.1:c.1334dup
  • NM_001407370.1:c.1334dup
  • NM_001407371.1:c.1334dup
  • NM_001407372.1:c.1334dup
  • NM_001407373.1:c.1334dup
  • NM_001407374.1:c.1334dup
  • NM_001407375.1:c.1334dup
  • NM_001407376.1:c.1334dup
  • NM_001407377.1:c.1334dup
  • NM_001407378.1:c.1334dup
  • NP_000051.1:p.Leu466Serfs
  • NP_001268652.2:p.Leu446Serfs
  • NP_001268652.2:p.Leu446fs
  • NP_001268653.2:p.Leu446fs
  • NP_001268654.1:p.Leu446Serfs
  • NP_001268654.1:p.Leu446fs
  • NP_001310511.1:p.Leu446Serfs
  • NP_001310511.1:p.Leu446fs
  • NP_001357587.1:p.Leu446fs
  • NP_001394293.1:p.Leu446Serfs
  • NP_001394294.1:p.Leu446Serfs
  • NP_001394295.1:p.Leu446Serfs
  • NP_001394296.1:p.Leu446Serfs
  • NP_001394297.1:p.Leu446Serfs
  • NP_001394298.1:p.Leu446Serfs
  • NP_001394299.1:p.Leu446Serfs
  • NP_001394300.1:p.Leu446Serfs
  • NP_001394301.1:p.Leu446Serfs
  • NP_001394302.1:p.Leu446Serfs
  • NP_001394303.1:p.Leu446Serfs
  • NP_001394304.1:p.Leu446Serfs
  • NP_001394305.1:p.Leu446Serfs
  • NP_001394306.1:p.Leu446Serfs
  • NP_001394307.1:p.Leu446Serfs
  • NC_000003.11:g.15686757dup
  • NM_001281723.3:c.1334dup
  • NM_001281725.2:c.1334dup
  • NM_001323582.1:c.1334dup
Protein change:
L446fs
Links:
dbSNP: rs397514440
NCBI 1000 Genomes Browser:
rs397514440
Molecular consequence:
  • NM_000060.4:c.1394dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281723.4:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281724.3:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281725.3:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323582.2:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370658.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407364.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407365.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407366.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407367.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407368.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407369.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407370.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407371.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407372.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407373.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407374.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407375.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407376.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407377.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407378.1:c.1334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370752.1:c.1015+319dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3193dup - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000486628Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Jul 8, 2016) 		unknownclinical testing

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

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].

Couce ML, Pérez-Cerdá C, García Silva MT, García Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol J, Fraga JM, Pérez B, Ugarte M.

Med Clin (Barc). 2011 Oct 22;137(11):500-3. doi: 10.1016/j.medcli.2011.01.018. Epub 2011 Jul 12. Spanish.

PubMed [citation]
PMID:
21752405

Details of each submission

From Counsyl, SCV000486628.2

#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: Mar 26, 2023