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NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 16, 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:
RCV000623390.3

Allele description [Variation Report for NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)]

NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
HGVS:
  • NC_000003.12:g.15645468C>A
  • NG_008019.2:g.49117C>A
  • NG_008019.3:g.49118C>A
  • NM_000060.4:c.1612C>A
  • NM_001281723.4:c.1552C>A
  • NM_001281724.3:c.1552C>A
  • NM_001281725.3:c.1552C>A
  • NM_001323582.2:c.1552C>A
  • NM_001370658.1:c.1552C>AMANE SELECT
  • NM_001370752.1:c.1015+537C>A
  • NM_001370753.1:c.399+3411C>A
  • NM_001407364.1:c.1552C>A
  • NM_001407365.1:c.1552C>A
  • NM_001407366.1:c.1552C>A
  • NM_001407367.1:c.1552C>A
  • NM_001407368.1:c.1552C>A
  • NM_001407369.1:c.1552C>A
  • NM_001407370.1:c.1552C>A
  • NM_001407371.1:c.1552C>A
  • NM_001407372.1:c.1552C>A
  • NM_001407373.1:c.1552C>A
  • NM_001407374.1:c.1552C>A
  • NM_001407375.1:c.1552C>A
  • NM_001407376.1:c.1552C>A
  • NM_001407377.1:c.1552C>A
  • NM_001407378.1:c.1552C>A
  • NP_000051.1:p.Arg538Ser
  • NP_001268652.2:p.Arg518Ser
  • NP_001268652.2:p.Arg518Ser
  • NP_001268653.2:p.Arg518Ser
  • NP_001268654.1:p.Arg518Ser
  • NP_001268654.1:p.Arg518Ser
  • NP_001310511.1:p.Arg518Ser
  • NP_001310511.1:p.Arg518Ser
  • NP_001357587.1:p.Arg518Ser
  • NP_001394293.1:p.Arg518Ser
  • NP_001394294.1:p.Arg518Ser
  • NP_001394295.1:p.Arg518Ser
  • NP_001394296.1:p.Arg518Ser
  • NP_001394297.1:p.Arg518Ser
  • NP_001394298.1:p.Arg518Ser
  • NP_001394299.1:p.Arg518Ser
  • NP_001394300.1:p.Arg518Ser
  • NP_001394301.1:p.Arg518Ser
  • NP_001394302.1:p.Arg518Ser
  • NP_001394303.1:p.Arg518Ser
  • NP_001394304.1:p.Arg518Ser
  • NP_001394305.1:p.Arg518Ser
  • NP_001394306.1:p.Arg518Ser
  • NP_001394307.1:p.Arg518Ser
  • NC_000003.11:g.15686975C>A
  • NM_000060.4:c.1612C>A
  • NM_001281723.3:c.1552C>A
  • NM_001281725.2:c.1552C>A
  • NM_001323582.1:c.1552C>A
Protein change:
R518S
Links:
dbSNP: rs80338686
NCBI 1000 Genomes Browser:
rs80338686
Molecular consequence:
  • NM_001370752.1:c.1015+537C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3411C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000060.4:c.1612C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000742654Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Jun 16, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Middle Eastern/Afghanigermlineyes1not providednot provided1not 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

Details of each submission

From Ambry Genetics, SCV000742654.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Middle Eastern/Afghani1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024