NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) AND Biotinidase deficiency

Clinical significance:Uncertain significance (Last evaluated: Jan 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000021961.2

Allele description [Variation Report for NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)]

NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
Other names:
P253S
HGVS:
  • NC_000003.12:g.15644613C>T
  • NG_008019.1:g.47866C>T
  • NG_008019.2:g.48262C>T
  • NM_000060.4:c.757C>T
  • NM_001281723.3:c.697C>T
  • NM_001281724.3:c.697C>T
  • NM_001281725.2:c.697C>T
  • NM_001323582.1:c.697C>T
  • NM_001370658.1:c.697C>TMANE SELECT
  • NM_001370752.1:c.697C>T
  • NM_001370753.1:c.399+2556C>T
  • NP_001268652.2:p.Pro233Ser
  • NP_001268653.2:p.Pro233Ser
  • NP_001268654.1:p.Pro233Ser
  • NP_001310511.1:p.Pro233Ser
  • NP_001357587.1:p.Pro233Ser
  • NP_001357681.1:p.Pro233Ser
  • NC_000003.11:g.15686120C>T
Protein change:
P233S
Links:
dbSNP: rs397514383
NCBI 1000 Genomes Browser:
rs397514383
Molecular consequence:
  • NM_001370753.1:c.399+2556C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281723.3:c.697C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.697C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.2:c.697C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.1:c.697C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.697C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370752.1:c.697C>T - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000042631Research and Development, ARUP Laboratoriesno assertion criteria providedPathogenic
(Feb 17, 2017)
germlineliterature only

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

SCV000800481Counsylcriteria provided, single submitter
Uncertain significance
(Jan 24, 2017)
unknownclinical testing

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

Citation Link,

SCV000853115SingHealth Duke-NUS Institute of Precision Medicineno assertion criteria providedPathogenic
(Jun 7, 2017)
germlinecuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedcuration
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

Wolf B, Jensen KP, Barshop B, Blitzer M, Carlson M, Goudie DR, Gokcay GH, Demirkol M, Baykal T, Demir F, Quary S, Shih LY, Pedro HF, Chen TH, Slonim AE.

Hum Mutat. 2005 Apr;25(4):413.

PubMed [citation]
PMID:
15776412

Details of each submission

From Research and Development, ARUP Laboratories, SCV000042631.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000800481.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From SingHealth Duke-NUS Institute of Precision Medicine, SCV000853115.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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