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NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter) AND Biotinidase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 31, 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:
RCV000667458.3

Allele description [Variation Report for NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)]

NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)
HGVS:
  • NC_000003.12:g.15644982C>T
  • NG_008019.2:g.48631C>T
  • NG_008019.3:g.48632C>T
  • NM_000060.4:c.1126C>T
  • NM_001281723.4:c.1066C>T
  • NM_001281724.3:c.1066C>T
  • NM_001281725.3:c.1066C>T
  • NM_001323582.2:c.1066C>T
  • NM_001370658.1:c.1066C>TMANE SELECT
  • NM_001370752.1:c.1015+51C>T
  • NM_001370753.1:c.399+2925C>T
  • NM_001407364.1:c.1066C>T
  • NM_001407365.1:c.1066C>T
  • NM_001407366.1:c.1066C>T
  • NM_001407367.1:c.1066C>T
  • NM_001407368.1:c.1066C>T
  • NM_001407369.1:c.1066C>T
  • NM_001407370.1:c.1066C>T
  • NM_001407371.1:c.1066C>T
  • NM_001407372.1:c.1066C>T
  • NM_001407373.1:c.1066C>T
  • NM_001407374.1:c.1066C>T
  • NM_001407375.1:c.1066C>T
  • NM_001407376.1:c.1066C>T
  • NM_001407377.1:c.1066C>T
  • NM_001407378.1:c.1066C>T
  • NP_000051.1:p.Gln376Ter
  • NP_001268652.2:p.Gln356Ter
  • NP_001268652.2:p.Gln356Ter
  • NP_001268653.2:p.Gln356Ter
  • NP_001268654.1:p.Gln356Ter
  • NP_001268654.1:p.Gln356Ter
  • NP_001310511.1:p.Gln356Ter
  • NP_001310511.1:p.Gln356Ter
  • NP_001357587.1:p.Gln356Ter
  • NP_001394293.1:p.Gln356Ter
  • NP_001394294.1:p.Gln356Ter
  • NP_001394295.1:p.Gln356Ter
  • NP_001394296.1:p.Gln356Ter
  • NP_001394297.1:p.Gln356Ter
  • NP_001394298.1:p.Gln356Ter
  • NP_001394299.1:p.Gln356Ter
  • NP_001394300.1:p.Gln356Ter
  • NP_001394301.1:p.Gln356Ter
  • NP_001394302.1:p.Gln356Ter
  • NP_001394303.1:p.Gln356Ter
  • NP_001394304.1:p.Gln356Ter
  • NP_001394305.1:p.Gln356Ter
  • NP_001394306.1:p.Gln356Ter
  • NP_001394307.1:p.Gln356Ter
  • NC_000003.11:g.15686489C>T
  • NM_001281723.3:c.1066C>T
  • NM_001281725.2:c.1066C>T
  • NM_001323582.1:c.1066C>T
Protein change:
Q356*
Links:
dbSNP: rs760612966
NCBI 1000 Genomes Browser:
rs760612966
Molecular consequence:
  • NM_001370752.1:c.1015+51C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+2925C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000060.4:c.1126C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281723.4:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281724.3:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281725.3:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323582.2:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370658.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407364.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407365.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407366.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407367.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407368.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407369.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407370.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407371.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407372.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407373.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407374.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407375.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407376.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407377.1:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407378.1:c.1066C>T - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000791907Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Pathogenic
(May 31, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Forty-eight novel mutations causing biotinidase deficiency.

Procter M, Wolf B, Mao R.

Mol Genet Metab. 2016 Mar;117(3):369-72. doi: 10.1016/j.ymgme.2016.01.002. Epub 2016 Jan 12.

PubMed [citation]
PMID:
26810761

Details of each submission

From Counsyl, SCV000791907.1

#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: Apr 15, 2024