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NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 13, 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:
RCV000434827.9

Allele description [Variation Report for NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg)]

NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg)
HGVS:
  • NC_000003.12:g.15645315T>C
  • NG_008019.2:g.48964T>C
  • NG_008019.3:g.48965T>C
  • NM_000060.4:c.1459T>C
  • NM_001281723.4:c.1399T>C
  • NM_001281724.3:c.1399T>C
  • NM_001281725.3:c.1399T>C
  • NM_001323582.2:c.1399T>C
  • NM_001370658.1:c.1399T>CMANE SELECT
  • NM_001370752.1:c.1015+384T>C
  • NM_001370753.1:c.399+3258T>C
  • NM_001407364.1:c.1399T>C
  • NM_001407365.1:c.1399T>C
  • NM_001407366.1:c.1399T>C
  • NM_001407367.1:c.1399T>C
  • NM_001407368.1:c.1399T>C
  • NM_001407369.1:c.1399T>C
  • NM_001407370.1:c.1399T>C
  • NM_001407371.1:c.1399T>C
  • NM_001407372.1:c.1399T>C
  • NM_001407373.1:c.1399T>C
  • NM_001407374.1:c.1399T>C
  • NM_001407375.1:c.1399T>C
  • NM_001407376.1:c.1399T>C
  • NM_001407377.1:c.1399T>C
  • NM_001407378.1:c.1399T>C
  • NP_000051.1:p.Trp487Arg
  • NP_001268652.2:p.Trp467Arg
  • NP_001268652.2:p.Trp467Arg
  • NP_001268653.2:p.Trp467Arg
  • NP_001268654.1:p.Trp467Arg
  • NP_001268654.1:p.Trp467Arg
  • NP_001310511.1:p.Trp467Arg
  • NP_001310511.1:p.Trp467Arg
  • NP_001357587.1:p.Trp467Arg
  • NP_001394293.1:p.Trp467Arg
  • NP_001394294.1:p.Trp467Arg
  • NP_001394295.1:p.Trp467Arg
  • NP_001394296.1:p.Trp467Arg
  • NP_001394297.1:p.Trp467Arg
  • NP_001394298.1:p.Trp467Arg
  • NP_001394299.1:p.Trp467Arg
  • NP_001394300.1:p.Trp467Arg
  • NP_001394301.1:p.Trp467Arg
  • NP_001394302.1:p.Trp467Arg
  • NP_001394303.1:p.Trp467Arg
  • NP_001394304.1:p.Trp467Arg
  • NP_001394305.1:p.Trp467Arg
  • NP_001394306.1:p.Trp467Arg
  • NP_001394307.1:p.Trp467Arg
  • NC_000003.11:g.15686822T>C
  • NM_001281723.3:c.1399T>C
  • NM_001281725.2:c.1399T>C
  • NM_001323582.1:c.1399T>C
Protein change:
W467R
Links:
dbSNP: rs397514422
NCBI 1000 Genomes Browser:
rs397514422
Molecular consequence:
  • NM_001370752.1:c.1015+384T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3258T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000060.4:c.1459T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000516745GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Apr 13, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000516745.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The W487R missense variant in the BTD gene has been reported previously in association with biotinidasedeficiency (Pomponio et al., 2000; ARUP BTD mutation database). Furthermore, multiple missense variantsin nearby residues (A478P, G488D, N489T, P497S) have been reported in the Human Gene MutationDatabase in association with biotinidase deficiency (Stenson et al., 2014). We consider this variant to be pathogenic.

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

Last Updated: Sep 29, 2024