NM_001370658.1(BTD):c.1399del (p.Trp467fs) AND Biotinidase deficiency

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Feb 17, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000022017.3

Allele description [Variation Report for NM_001370658.1(BTD):c.1399del (p.Trp467fs)]

NM_001370658.1(BTD):c.1399del (p.Trp467fs)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
Other names:
L486fs
HGVS:
  • NC_000003.12:g.15645315del
  • NG_008019.1:g.48568del
  • NG_008019.2:g.48964del
  • NM_001281723.3:c.1399del
  • NM_001281724.3:c.1399del
  • NM_001281725.2:c.1399del
  • NM_001323582.1:c.1399del
  • NM_001370658.1:c.1399delMANE SELECT
  • NM_001370752.1:c.1015+384del
  • NM_001370753.1:c.399+3258del
  • NP_001268652.2:p.Trp467fs
  • NP_001268653.2:p.Trp467fs
  • NP_001268654.1:p.Trp467fs
  • NP_001310511.1:p.Trp467fs
  • NP_001357587.1:p.Trp467fs
  • NC_000003.11:g.15686822del
Protein change:
W467fs
Links:
dbSNP: rs397514423
NCBI 1000 Genomes Browser:
rs397514423
Molecular consequence:
  • NM_001281723.3:c.1399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281724.3:c.1399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281725.2:c.1399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323582.1:c.1399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370658.1:c.1399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370752.1:c.1015+384del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3258del - 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

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000042689Research and Development, ARUP Laboratoriescriteria provided, single submitter
Pathogenic
(Feb 17, 2017)
germlineclinical testing

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

SCV000486309Counsylcriteria provided, single submitter
Likely pathogenic
(May 10, 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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
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 Research and Development, ARUP Laboratories, SCV000042689.2

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

Description

Enzyme activity @ 3.3 U/L w/no paired control. Seen with c.356A>G,p.N119S.

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

From Counsyl, SCV000486309.1

#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: Oct 7, 2021

Support Center