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NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) AND BTD-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 13, 2024
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:
RCV004751584.1

Allele description [Variation Report for NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)]

NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
HGVS:
  • NC_000003.12:g.15645217A>G
  • NG_008019.2:g.48866A>G
  • NG_008019.3:g.48867A>G
  • NM_000060.4:c.1361A>G
  • NM_001281723.4:c.1301A>G
  • NM_001281724.3:c.1301A>G
  • NM_001281725.3:c.1301A>G
  • NM_001323582.2:c.1301A>G
  • NM_001370658.1:c.1301A>GMANE SELECT
  • NM_001370752.1:c.1015+286A>G
  • NM_001370753.1:c.399+3160A>G
  • NM_001407364.1:c.1301A>G
  • NM_001407365.1:c.1301A>G
  • NM_001407366.1:c.1301A>G
  • NM_001407367.1:c.1301A>G
  • NM_001407368.1:c.1301A>G
  • NM_001407369.1:c.1301A>G
  • NM_001407370.1:c.1301A>G
  • NM_001407371.1:c.1301A>G
  • NM_001407372.1:c.1301A>G
  • NM_001407373.1:c.1301A>G
  • NM_001407374.1:c.1301A>G
  • NM_001407375.1:c.1301A>G
  • NM_001407376.1:c.1301A>G
  • NM_001407377.1:c.1301A>G
  • NM_001407378.1:c.1301A>G
  • NP_000051.1:p.Tyr454Cys
  • NP_001268652.2:p.Tyr434Cys
  • NP_001268652.2:p.Tyr434Cys
  • NP_001268653.2:p.Tyr434Cys
  • NP_001268654.1:p.Tyr434Cys
  • NP_001268654.1:p.Tyr434Cys
  • NP_001310511.1:p.Tyr434Cys
  • NP_001310511.1:p.Tyr434Cys
  • NP_001357587.1:p.Tyr434Cys
  • NP_001394293.1:p.Tyr434Cys
  • NP_001394294.1:p.Tyr434Cys
  • NP_001394295.1:p.Tyr434Cys
  • NP_001394296.1:p.Tyr434Cys
  • NP_001394297.1:p.Tyr434Cys
  • NP_001394298.1:p.Tyr434Cys
  • NP_001394299.1:p.Tyr434Cys
  • NP_001394300.1:p.Tyr434Cys
  • NP_001394301.1:p.Tyr434Cys
  • NP_001394302.1:p.Tyr434Cys
  • NP_001394303.1:p.Tyr434Cys
  • NP_001394304.1:p.Tyr434Cys
  • NP_001394305.1:p.Tyr434Cys
  • NP_001394306.1:p.Tyr434Cys
  • NP_001394307.1:p.Tyr434Cys
  • NC_000003.11:g.15686724A>G
  • NM_000060.4:c.1361A>G
  • NM_001281723.3:c.1301A>G
  • NM_001281725.2:c.1301A>G
  • NM_001323582.1:c.1301A>G
  • NM_001370658.1:c.1301A>G
Protein change:
Y434C
Links:
dbSNP: rs397514345
NCBI 1000 Genomes Browser:
rs397514345
Molecular consequence:
  • NM_001370752.1:c.1015+286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3160A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000060.4:c.1361A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.1301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.1301A>G - 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
SCV005355307PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(May 13, 2024) 		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, SCV005355307.1

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

Description

The BTD c.1361A>G variant is predicted to result in the amino acid substitution p.Tyr454Cys. This variant has been reported along with an additional BTD variant(s) in multiple patients with profound biotinidase deficiency (<10% enzyme activity) (Wolf et al. 2005. PubMed ID: 15776412; Procter et al. 2016. PubMed ID: 26810761; Canda et al. 2018. PubMed ID: 29995633). It has also been reported in patients with partial biotinidase deficiency (10%-30% enzyme activity) (Hsu et al. 2019. PubMed ID: 30616616; Funghini et al. 2020. PubMed ID: 33312878) and in several patients with abnormal newborn screen results suggestive of biotinidase deficiency (Seker Yilmaz et al. 2018. PubMed ID: 29353266). This variant is reported in 0.21% of alleles in individuals of South Asian descent in gnomAD. Taken together, this variant is interpreted as likely pathogenic.

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

Last Updated: Jun 8, 2025