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NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe) AND Biotinidase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 13, 2023
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:
RCV003233062.8

Allele description [Variation Report for NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)]

NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)
HGVS:
  • NC_000003.12:g.15645268G>T
  • NG_008019.3:g.48918G>T
  • NM_001281723.4:c.1352G>T
  • NM_001281724.3:c.1352G>T
  • NM_001281725.3:c.1352G>T
  • NM_001281726.2:c.*3130G>T
  • NM_001323582.2:c.1352G>T
  • NM_001370658.1:c.1352G>TMANE SELECT
  • NM_001370752.1:c.1015+337G>T
  • NM_001370753.1:c.399+3211G>T
  • NM_001407364.1:c.1352G>T
  • NM_001407365.1:c.1352G>T
  • NM_001407366.1:c.1352G>T
  • NM_001407367.1:c.1352G>T
  • NM_001407368.1:c.1352G>T
  • NM_001407369.1:c.1352G>T
  • NM_001407370.1:c.1352G>T
  • NM_001407371.1:c.1352G>T
  • NM_001407372.1:c.1352G>T
  • NM_001407373.1:c.1352G>T
  • NM_001407374.1:c.1352G>T
  • NM_001407375.1:c.1352G>T
  • NM_001407376.1:c.1352G>T
  • NM_001407377.1:c.1352G>T
  • NM_001407378.1:c.1352G>T
  • NM_001407379.1:c.1015+337G>T
  • NM_001407380.1:c.399+3211G>T
  • NM_001407398.1:c.399+3211G>T
  • NM_001407399.1:c.399+3211G>T
  • NM_001407400.1:c.399+3211G>T
  • NM_001407401.1:c.399+3211G>T
  • NP_001268652.2:p.Cys451Phe
  • NP_001268653.2:p.Cys451Phe
  • NP_001268654.1:p.Cys451Phe
  • NP_001310511.1:p.Cys451Phe
  • NP_001357587.1:p.Cys451Phe
  • NP_001394293.1:p.Cys451Phe
  • NP_001394294.1:p.Cys451Phe
  • NP_001394295.1:p.Cys451Phe
  • NP_001394296.1:p.Cys451Phe
  • NP_001394297.1:p.Cys451Phe
  • NP_001394298.1:p.Cys451Phe
  • NP_001394299.1:p.Cys451Phe
  • NP_001394300.1:p.Cys451Phe
  • NP_001394301.1:p.Cys451Phe
  • NP_001394302.1:p.Cys451Phe
  • NP_001394303.1:p.Cys451Phe
  • NP_001394304.1:p.Cys451Phe
  • NP_001394305.1:p.Cys451Phe
  • NP_001394306.1:p.Cys451Phe
  • NP_001394307.1:p.Cys451Phe
  • NC_000003.11:g.15686775G>T
  • NG_008019.2:g.48917G>T
Protein change:
C451F
Molecular consequence:
  • NM_001370752.1:c.1015+337G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3211G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407379.1:c.1015+337G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407380.1:c.399+3211G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407398.1:c.399+3211G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407399.1:c.399+3211G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407400.1:c.399+3211G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407401.1:c.399+3211G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281723.4:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.1352G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Biotinidase deficiency
Synonyms:
BTD deficiency; Late-onset biotin-responsive multiple carboxylase deficiency; Biotin deficiency
Identifiers:
MONDO: MONDO:0009665; MedGen: C0220754; Orphanet: 79241; OMIM: 253260

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003930367Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 13, 2023) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownno1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Intergen, Intergen Genetics and Rare Diseases Diagnosis Center, SCV003930367.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnonot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024