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NM_001370658.1(BTD):c.-18A>T AND Biotinidase deficiency

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Jul 24, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000411121.4

Allele description [Variation Report for NM_001370658.1(BTD):c.-18A>T]

NM_001370658.1(BTD):c.-18A>T

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.-18A>T
HGVS:
  • NC_000003.12:g.15601893A>T
  • NG_008019.3:g.5543A>T
  • NG_098817.1:g.520A>T
  • NM_000060.4:c.43A>T
  • NM_001281724.3:c.-206A>T
  • NM_001281726.3:c.-18A>T
  • NM_001323582.2:c.-294A>T
  • NM_001370658.1:c.-18A>TMANE SELECT
  • NM_001370752.1:c.-18A>T
  • NM_001370753.1:c.-18A>T
  • NM_001407365.1:c.-17+246A>T
  • NM_001407366.1:c.-583A>T
  • NM_001407369.1:c.-569A>T
  • NM_001407370.1:c.-569+123A>T
  • NM_001407371.1:c.-743+123A>T
  • NM_001407372.1:c.-175A>T
  • NM_001407373.1:c.-137A>T
  • NM_001407374.1:c.-192A>T
  • NM_001407378.1:c.-395A>T
  • NM_001407380.1:c.-18A>T
  • NM_001407384.1:c.-294A>T
  • NM_001407390.1:c.-192A>T
  • NM_001407394.1:c.-293+123A>T
  • NM_001407395.1:c.-133A>T
  • NM_001407398.1:c.-18A>T
  • NM_001407400.1:c.-18A>T
  • NP_000051.1:p.Arg15Ter
  • NC_000003.11:g.15643400A>T
  • NG_008019.2:g.5542A>T
  • NR_176358.1:n.149A>T
Links:
dbSNP: rs143058480
NCBI 1000 Genomes Browser:
rs143058480
Molecular consequence:
  • NM_001281724.3:c.-206A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281726.3:c.-18A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001323582.2:c.-294A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001370658.1:c.-18A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001370752.1:c.-18A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001370753.1:c.-18A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407366.1:c.-583A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407369.1:c.-569A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407372.1:c.-175A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407373.1:c.-137A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407374.1:c.-192A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407378.1:c.-395A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407380.1:c.-18A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407384.1:c.-294A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407390.1:c.-192A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407395.1:c.-133A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407398.1:c.-18A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407400.1:c.-18A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407365.1:c.-17+246A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407370.1:c.-569+123A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407371.1:c.-743+123A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407394.1:c.-293+123A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_176358.1:n.149A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000060.4:c.43A>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000486812Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Aug 12, 2016) 		unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf,

Citation Link,

SCV004211440Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 24, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot 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 Counsyl, SCV000486812.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV004211440.1

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

Last Updated: Oct 8, 2024