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NM_001370658.1(BTD):c.566G>A (p.Arg189His) AND BTD-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 28, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003905037.2

Allele description [Variation Report for NM_001370658.1(BTD):c.566G>A (p.Arg189His)]

NM_001370658.1(BTD):c.566G>A (p.Arg189His)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.566G>A (p.Arg189His)
HGVS:
  • NC_000003.12:g.15644482G>A
  • NG_008019.2:g.48131G>A
  • NG_008019.3:g.48132G>A
  • NM_000060.4:c.626G>A
  • NM_001281723.4:c.566G>A
  • NM_001281724.3:c.566G>A
  • NM_001281725.3:c.566G>A
  • NM_001323582.2:c.566G>A
  • NM_001370658.1:c.566G>AMANE SELECT
  • NM_001370752.1:c.566G>A
  • NM_001370753.1:c.399+2425G>A
  • NM_001407364.1:c.566G>A
  • NM_001407365.1:c.566G>A
  • NM_001407366.1:c.566G>A
  • NM_001407367.1:c.566G>A
  • NM_001407368.1:c.566G>A
  • NM_001407369.1:c.566G>A
  • NM_001407370.1:c.566G>A
  • NM_001407371.1:c.566G>A
  • NM_001407372.1:c.566G>A
  • NM_001407373.1:c.566G>A
  • NM_001407374.1:c.566G>A
  • NM_001407375.1:c.566G>A
  • NM_001407376.1:c.566G>A
  • NM_001407377.1:c.566G>A
  • NM_001407378.1:c.566G>A
  • NM_001407379.1:c.566G>A
  • NP_000051.1:p.Arg209His
  • NP_000051.1:p.Arg209His
  • NP_001268652.2:p.Arg189His
  • NP_001268652.2:p.Arg189His
  • NP_001268653.2:p.Arg189His
  • NP_001268654.1:p.Arg189His
  • NP_001268654.1:p.Arg189His
  • NP_001310511.1:p.Arg189His
  • NP_001310511.1:p.Arg189His
  • NP_001357587.1:p.Arg189His
  • NP_001357681.1:p.Arg189His
  • NP_001394293.1:p.Arg189His
  • NP_001394294.1:p.Arg189His
  • NP_001394295.1:p.Arg189His
  • NP_001394296.1:p.Arg189His
  • NP_001394297.1:p.Arg189His
  • NP_001394298.1:p.Arg189His
  • NP_001394299.1:p.Arg189His
  • NP_001394300.1:p.Arg189His
  • NP_001394301.1:p.Arg189His
  • NP_001394302.1:p.Arg189His
  • NP_001394303.1:p.Arg189His
  • NP_001394304.1:p.Arg189His
  • NP_001394305.1:p.Arg189His
  • NP_001394306.1:p.Arg189His
  • NP_001394307.1:p.Arg189His
  • NP_001394308.1:p.Arg189His
  • NC_000003.11:g.15685989G>A
  • NM_001281723.3:c.566G>A
  • NM_001281724.1:c.632G>A
  • NM_001281725.2:c.566G>A
  • NM_001323582.1:c.566G>A
  • NM_001370658.1:c.566G>A
Protein change:
R189H
Links:
dbSNP: rs398123139
NCBI 1000 Genomes Browser:
rs398123139
Molecular consequence:
  • NM_001370753.1:c.399+2425G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000060.4:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370752.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407379.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
BTD-related disorder
Synonyms:
BTD-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004725007PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Oct 28, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004725007.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BTD c.626G>A variant is predicted to result in the amino acid substitution p.Arg209His. This variant has been reported in the compound heterozygous state in individuals with biotinidase deficiency (Gannavarapu et al. 2015. PubMed ID: 26361991; Li et al. 2014. PubMed ID: 24797656; Karaca et al. 2015. PubMed ID: 25754625; Al-Jasmi et al. 2015. PubMed ID: 26589311). In vitro experimental studies suggest this variant impacts protein function (Li et al. 2014. PubMed ID: 24797656). An alternate nucleotide change affecting the same amino acid (p.Arg209Cys) has been reported in individuals with biotinidase deficiency (Procter et al. 2016. PubMed ID: 26810761; Kars et al. 2021. PubMed ID: 34426522). This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-15685989-G-A). This variant is interpreted as pathogenic.

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

Last Updated: Jun 14, 2025