NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Oct 31, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001284605.1

Allele description [Variation Report for NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)]

NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
HGVS:
  • NC_000003.12:g.15644599T>C
  • NG_008019.1:g.47852T>C
  • NG_008019.2:g.48248T>C
  • NM_001281723.3:c.683T>C
  • NM_001281724.3:c.683T>C
  • NM_001281725.2:c.683T>C
  • NM_001323582.1:c.683T>C
  • NM_001370658.1:c.683T>CMANE SELECT
  • NM_001370752.1:c.683T>C
  • NM_001370753.1:c.399+2542T>C
  • NP_001268652.2:p.Ile228Thr
  • NP_001268653.2:p.Ile228Thr
  • NP_001268654.1:p.Ile228Thr
  • NP_001310511.1:p.Ile228Thr
  • NP_001357587.1:p.Ile228Thr
  • NP_001357681.1:p.Ile228Thr
  • NC_000003.11:g.15686106T>C
  • NM_001281724.1:c.749T>C
Protein change:
I228T
Links:
dbSNP: rs397514382
NCBI 1000 Genomes Browser:
rs397514382
Molecular consequence:
  • NM_001370753.1:c.399+2542T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281723.3:c.683T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.683T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.2:c.683T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.1:c.683T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.683T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370752.1:c.683T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001470475Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely pathogenic
(Oct 31, 2019)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

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
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470475.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. Assessment of experimental evidence suggests this variant results in abnormal protein function.

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

Last Updated: Oct 8, 2021

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