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NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Aug 12, 2021
Review status:
criteria provided, conflicting classifications
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:
RCV001578266.7

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001805821GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Aug 12, 2021)
germlineclinical testing

Citation Link,

SCV002047169Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Likely pathogenic
(May 28, 2021)
unknownclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot 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

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

Wolf B, Jensen KP, Barshop B, Blitzer M, Carlson M, Goudie DR, Gokcay GH, Demirkol M, Baykal T, Demir F, Quary S, Shih LY, Pedro HF, Chen TH, Slonim AE.

Hum Mutat. 2005 Apr;25(4):413.

PubMed [citation]
PMID:
15776412
See all PubMed Citations (8)

Details of each submission

From GeneDx, SCV001805821.1

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

Description

Reported in one individual with profound biotinidase deficiency in whom two known pathogenic variants in the BTD gene were also found. In this individual, the Y454C variant was in cis with one of the known pathogenic variants with the other pathogenic variant on the opposite allele (Wolf et al., 2005); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect This variant is associated with the following publications: (PMID: 30616616, 26810761, 15776412, 31973013)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002047169.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

The variant has been reported in multiple individuals with profound or partial biotinidase deficiency (PMID: 33312878 (2020), 29995633 (2018), 26810761 (2016), 15776412 (2005)). Variant occurs in 3 or more cases with a lone recessive pathogenic/likely pathogenic variant in the same gene, and at least 3 cases have phenotype known to be consistent with disease. Variant is predicted to have a damaging effect on the protein.Based on the available information, the variant is predicted to be likely pathogenic.

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

Last Updated: Oct 8, 2024