U.S. flag

An official website of the United States government

NM_001370658.1(BTD):c.886C>A (p.Pro296Thr) AND Biotinidase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 30, 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:
RCV000670326.2

Allele description [Variation Report for NM_001370658.1(BTD):c.886C>A (p.Pro296Thr)]

NM_001370658.1(BTD):c.886C>A (p.Pro296Thr)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr)
HGVS:
  • NC_000003.12:g.15644802C>A
  • NG_008019.2:g.48451C>A
  • NG_008019.3:g.48452C>A
  • NM_000060.4:c.946C>A
  • NM_001281723.4:c.886C>A
  • NM_001281724.3:c.886C>A
  • NM_001281725.3:c.886C>A
  • NM_001323582.2:c.886C>A
  • NM_001370658.1:c.886C>AMANE SELECT
  • NM_001370752.1:c.886C>A
  • NM_001370753.1:c.399+2745C>A
  • NM_001407364.1:c.886C>A
  • NM_001407365.1:c.886C>A
  • NM_001407366.1:c.886C>A
  • NM_001407367.1:c.886C>A
  • NM_001407368.1:c.886C>A
  • NM_001407369.1:c.886C>A
  • NM_001407370.1:c.886C>A
  • NM_001407371.1:c.886C>A
  • NM_001407372.1:c.886C>A
  • NM_001407373.1:c.886C>A
  • NM_001407374.1:c.886C>A
  • NM_001407375.1:c.886C>A
  • NM_001407376.1:c.886C>A
  • NM_001407377.1:c.886C>A
  • NM_001407378.1:c.886C>A
  • NM_001407379.1:c.886C>A
  • NP_000051.1:p.Pro316Thr
  • NP_001268652.2:p.Pro296Thr
  • NP_001268652.2:p.Pro296Thr
  • NP_001268653.2:p.Pro296Thr
  • NP_001268654.1:p.Pro296Thr
  • NP_001268654.1:p.Pro296Thr
  • NP_001310511.1:p.Pro296Thr
  • NP_001310511.1:p.Pro296Thr
  • NP_001357587.1:p.Pro296Thr
  • NP_001357681.1:p.Pro296Thr
  • NP_001394293.1:p.Pro296Thr
  • NP_001394294.1:p.Pro296Thr
  • NP_001394295.1:p.Pro296Thr
  • NP_001394296.1:p.Pro296Thr
  • NP_001394297.1:p.Pro296Thr
  • NP_001394298.1:p.Pro296Thr
  • NP_001394299.1:p.Pro296Thr
  • NP_001394300.1:p.Pro296Thr
  • NP_001394301.1:p.Pro296Thr
  • NP_001394302.1:p.Pro296Thr
  • NP_001394303.1:p.Pro296Thr
  • NP_001394304.1:p.Pro296Thr
  • NP_001394305.1:p.Pro296Thr
  • NP_001394306.1:p.Pro296Thr
  • NP_001394307.1:p.Pro296Thr
  • NP_001394308.1:p.Pro296Thr
  • NC_000003.11:g.15686309C>A
  • NM_001281723.3:c.886C>A
  • NM_001281725.2:c.886C>A
  • NM_001323582.1:c.886C>A
Protein change:
P296T
Links:
dbSNP: rs1553653894
NCBI 1000 Genomes Browser:
rs1553653894
Molecular consequence:
  • NM_001370753.1:c.399+2745C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000060.4:c.946C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370752.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407379.1:c.886C>A - missense variant - [Sequence Ontology: SO:0001583]

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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000795166Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Oct 30, 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

Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.

Cowan TM, Kazerouni NN, Dharajiya N, Lorey F, Roberson M, Hodgkinson C, Schrijver I.

Mol Genet Metab. 2012 Aug;106(4):485-7. doi: 10.1016/j.ymgme.2012.05.017. Epub 2012 May 30.

PubMed [citation]
PMID:
22698809

Details of each submission

From Counsyl, SCV000795166.1

#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: Mar 26, 2023