NM_001370658.1(BTD):c.1268T>C (p.Phe423Ser) AND Biotinidase deficiency

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

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000715010.1

Allele description [Variation Report for NM_001370658.1(BTD):c.1268T>C (p.Phe423Ser)]

NM_001370658.1(BTD):c.1268T>C (p.Phe423Ser)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1268T>C (p.Phe423Ser)
HGVS:
  • NC_000003.12:g.15645184T>C
  • NG_008019.1:g.48437T>C
  • NG_008019.2:g.48833T>C
  • NM_001281723.3:c.1268T>C
  • NM_001281724.3:c.1268T>C
  • NM_001281725.2:c.1268T>C
  • NM_001323582.1:c.1268T>C
  • NM_001370658.1:c.1268T>CMANE SELECT
  • NM_001370752.1:c.1015+253T>C
  • NM_001370753.1:c.399+3127T>C
  • NP_001268652.2:p.Phe423Ser
  • NP_001268653.2:p.Phe423Ser
  • NP_001268654.1:p.Phe423Ser
  • NP_001310511.1:p.Phe423Ser
  • NP_001357587.1:p.Phe423Ser
  • NC_000003.11:g.15686691T>C
Protein change:
F423S
Links:
dbSNP: rs1559600573
NCBI 1000 Genomes Browser:
rs1559600573
Molecular consequence:
  • NM_001370752.1:c.1015+253T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3127T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281723.3:c.1268T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.1268T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.2:c.1268T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.1:c.1268T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.1268T>C - 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
SCV000845827Research and Development, ARUP Laboratoriescriteria provided, single submitter
Likely pathogenic
(Feb 17, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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, SCV000845827.1

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

Description

Enzyme activity @<0.4 U/L with a paired control in the normal range. Second mutation not identified. Hispanic.

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

Last Updated: Oct 7, 2021

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