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NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer) AND Biotinidase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2022
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:
RCV003053974.3

Allele description [Variation Report for NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer)]

NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer)
HGVS:
  • NC_000003.12:g.15645046_15645071dup
  • NG_008019.2:g.48695_48720dup
  • NG_008019.3:g.48696_48721dup
  • NM_000060.4:c.1190_1215dup
  • NM_001281723.4:c.1130_1155dup
  • NM_001281724.3:c.1130_1155dup
  • NM_001281725.3:c.1130_1155dup
  • NM_001323582.2:c.1130_1155dup
  • NM_001370658.1:c.1130_1155dupMANE SELECT
  • NM_001370752.1:c.1015+115_1015+140dup
  • NM_001370753.1:c.399+2989_399+3014dup
  • NM_001407364.1:c.1130_1155dup
  • NM_001407365.1:c.1130_1155dup
  • NM_001407366.1:c.1130_1155dup
  • NM_001407367.1:c.1130_1155dup
  • NM_001407368.1:c.1130_1155dup
  • NM_001407369.1:c.1130_1155dup
  • NM_001407370.1:c.1130_1155dup
  • NM_001407371.1:c.1130_1155dup
  • NM_001407372.1:c.1130_1155dup
  • NM_001407373.1:c.1130_1155dup
  • NM_001407374.1:c.1130_1155dup
  • NM_001407375.1:c.1130_1155dup
  • NM_001407376.1:c.1130_1155dup
  • NM_001407377.1:c.1130_1155dup
  • NM_001407378.1:c.1130_1155dup
  • NP_000051.1:p.Val406Argfs
  • NP_001268652.2:p.Val386Argfs
  • NP_001268652.2:p.Val386delinsArgTer
  • NP_001268653.2:p.Val386delinsArgTer
  • NP_001268654.1:p.Val386Argfs
  • NP_001268654.1:p.Val386delinsArgTer
  • NP_001310511.1:p.Val386Argfs
  • NP_001310511.1:p.Val386delinsArgTer
  • NP_001357587.1:p.Val386delinsArgTer
  • NP_001394293.1:p.Val386Argfs
  • NP_001394294.1:p.Val386Argfs
  • NP_001394295.1:p.Val386Argfs
  • NP_001394296.1:p.Val386Argfs
  • NP_001394297.1:p.Val386Argfs
  • NP_001394298.1:p.Val386Argfs
  • NP_001394299.1:p.Val386Argfs
  • NP_001394300.1:p.Val386Argfs
  • NP_001394301.1:p.Val386Argfs
  • NP_001394302.1:p.Val386Argfs
  • NP_001394303.1:p.Val386Argfs
  • NP_001394304.1:p.Val386Argfs
  • NP_001394305.1:p.Val386Argfs
  • NP_001394306.1:p.Val386Argfs
  • NP_001394307.1:p.Val386Argfs
  • NC_000003.11:g.15686549_15686550insCTGAGATGATGTATGACAATTTCACC
  • NC_000003.11:g.15686553_15686578dup
  • NM_001281723.3:c.1130_1155dup
  • NM_001281725.2:c.1130_1155dup
  • NM_001323582.1:c.1130_1155dup
Molecular consequence:
  • NM_000060.4:c.1190_1215dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281723.4:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281725.3:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323582.2:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407364.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407365.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407366.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407367.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407368.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407369.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407370.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407371.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407372.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407373.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407374.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407375.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407376.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407377.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407378.1:c.1130_1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370752.1:c.1015+115_1015+140dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+2989_399+3014dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281724.3:c.1130_1155dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370658.1:c.1130_1155dup - nonsense - [Sequence Ontology: SO:0001587]

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
SCV003344174Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Aug 1, 2022)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.

Borsatto T, Sperb-Ludwig F, Pinto LL, Luca GR, Carvalho FL, Souza CF, Medeiros PF, Lourenço CM, Lo Filho R, Neto EC, Bernardi P, Leistner-Segal S, Schwartz IV.

BMC Med Genet. 2014 Sep 1;15:96. doi: 10.1186/s12881-014-0096-3.

PubMed [citation]
PMID:
25174816
PMCID:
PMC4236587

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil.

Lara MT, Gurgel-Giannetti J, Aguiar MJ, Ladeira RV, Carvalho NO, Del Castillo DM, Viana MB, Januario JN.

JIMD Rep. 2015;24:103-7. doi: 10.1007/8904_2015_447. Epub 2015 May 13.

PubMed [citation]
PMID:
25967232
PMCID:
PMC4582019
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003344174.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Val406Argfs*2) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 138 amino acid(s) of the BTD protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BTD protein in which other variant(s) (p.Asp543Glu) have been determined to be pathogenic (PMID: 25174816, 25967232, 28498829). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with BTD-related conditions. This variant is not present in population databases (gnomAD no frequency).

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

Last Updated: Sep 29, 2024