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NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter) AND Biotinidase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 24, 2015
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:
RCV000410177.3

Allele description [Variation Report for NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)]

NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)
HGVS:
  • NC_000003.12:g.15644985G>T
  • NG_008019.2:g.48634G>T
  • NG_008019.3:g.48635G>T
  • NM_000060.4:c.1129G>T
  • NM_001281723.4:c.1069G>T
  • NM_001281724.3:c.1069G>T
  • NM_001281725.3:c.1069G>T
  • NM_001323582.2:c.1069G>T
  • NM_001370658.1:c.1069G>TMANE SELECT
  • NM_001370752.1:c.1015+54G>T
  • NM_001370753.1:c.399+2928G>T
  • NM_001407364.1:c.1069G>T
  • NM_001407365.1:c.1069G>T
  • NM_001407366.1:c.1069G>T
  • NM_001407367.1:c.1069G>T
  • NM_001407368.1:c.1069G>T
  • NM_001407369.1:c.1069G>T
  • NM_001407370.1:c.1069G>T
  • NM_001407371.1:c.1069G>T
  • NM_001407372.1:c.1069G>T
  • NM_001407373.1:c.1069G>T
  • NM_001407374.1:c.1069G>T
  • NM_001407375.1:c.1069G>T
  • NM_001407376.1:c.1069G>T
  • NM_001407377.1:c.1069G>T
  • NM_001407378.1:c.1069G>T
  • NP_000051.1:p.Glu377Ter
  • NP_001268652.2:p.Glu357Ter
  • NP_001268652.2:p.Glu357Ter
  • NP_001268653.2:p.Glu357Ter
  • NP_001268654.1:p.Glu357Ter
  • NP_001268654.1:p.Glu357Ter
  • NP_001310511.1:p.Glu357Ter
  • NP_001310511.1:p.Glu357Ter
  • NP_001357587.1:p.Glu357Ter
  • NP_001394293.1:p.Glu357Ter
  • NP_001394294.1:p.Glu357Ter
  • NP_001394295.1:p.Glu357Ter
  • NP_001394296.1:p.Glu357Ter
  • NP_001394297.1:p.Glu357Ter
  • NP_001394298.1:p.Glu357Ter
  • NP_001394299.1:p.Glu357Ter
  • NP_001394300.1:p.Glu357Ter
  • NP_001394301.1:p.Glu357Ter
  • NP_001394302.1:p.Glu357Ter
  • NP_001394303.1:p.Glu357Ter
  • NP_001394304.1:p.Glu357Ter
  • NP_001394305.1:p.Glu357Ter
  • NP_001394306.1:p.Glu357Ter
  • NP_001394307.1:p.Glu357Ter
  • NC_000003.11:g.15686492G>T
  • NM_001281723.3:c.1069G>T
  • NM_001281725.2:c.1069G>T
  • NM_001323582.1:c.1069G>T
Protein change:
E357*
Links:
dbSNP: rs1057516252
NCBI 1000 Genomes Browser:
rs1057516252
Molecular consequence:
  • NM_001370752.1:c.1015+54G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+2928G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000060.4:c.1129G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281723.4:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281724.3:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281725.3:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323582.2:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370658.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407364.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407365.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407366.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407367.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407368.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407369.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407370.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407371.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407372.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407373.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407374.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407375.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407376.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407377.1:c.1069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407378.1:c.1069G>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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000485360Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Nov 24, 2015) 		unknownclinical testing

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

Details of each submission

From Counsyl, SCV000485360.2

#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: Mar 26, 2023