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NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 12, 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:
RCV000759002.4

Allele description [Variation Report for NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)]

NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)
HGVS:
  • NC_000003.12:g.15645067C>T
  • NG_008019.2:g.48716C>T
  • NG_008019.3:g.48717C>T
  • NM_000060.4:c.1211C>T
  • NM_001281723.4:c.1151C>T
  • NM_001281724.3:c.1151C>T
  • NM_001281725.3:c.1151C>T
  • NM_001323582.2:c.1151C>T
  • NM_001370658.1:c.1151C>TMANE SELECT
  • NM_001370752.1:c.1015+136C>T
  • NM_001370753.1:c.399+3010C>T
  • NM_001407364.1:c.1151C>T
  • NM_001407365.1:c.1151C>T
  • NM_001407366.1:c.1151C>T
  • NM_001407367.1:c.1151C>T
  • NM_001407368.1:c.1151C>T
  • NM_001407369.1:c.1151C>T
  • NM_001407370.1:c.1151C>T
  • NM_001407371.1:c.1151C>T
  • NM_001407372.1:c.1151C>T
  • NM_001407373.1:c.1151C>T
  • NM_001407374.1:c.1151C>T
  • NM_001407375.1:c.1151C>T
  • NM_001407376.1:c.1151C>T
  • NM_001407377.1:c.1151C>T
  • NM_001407378.1:c.1151C>T
  • NP_000051.1:p.Thr404Ile
  • NP_001268652.2:p.Thr384Ile
  • NP_001268652.2:p.Thr384Ile
  • NP_001268653.2:p.Thr384Ile
  • NP_001268654.1:p.Thr384Ile
  • NP_001268654.1:p.Thr384Ile
  • NP_001310511.1:p.Thr384Ile
  • NP_001310511.1:p.Thr384Ile
  • NP_001357587.1:p.Thr384Ile
  • NP_001394293.1:p.Thr384Ile
  • NP_001394294.1:p.Thr384Ile
  • NP_001394295.1:p.Thr384Ile
  • NP_001394296.1:p.Thr384Ile
  • NP_001394297.1:p.Thr384Ile
  • NP_001394298.1:p.Thr384Ile
  • NP_001394299.1:p.Thr384Ile
  • NP_001394300.1:p.Thr384Ile
  • NP_001394301.1:p.Thr384Ile
  • NP_001394302.1:p.Thr384Ile
  • NP_001394303.1:p.Thr384Ile
  • NP_001394304.1:p.Thr384Ile
  • NP_001394305.1:p.Thr384Ile
  • NP_001394306.1:p.Thr384Ile
  • NP_001394307.1:p.Thr384Ile
  • NC_000003.11:g.15686574C>T
  • NM_001281723.3:c.1151C>T
  • NM_001281725.2:c.1151C>T
  • NM_001323582.1:c.1151C>T
  • NM_001370658.1:c.1151C>T
Protein change:
T384I
Links:
dbSNP: rs397514405
NCBI 1000 Genomes Browser:
rs397514405
Molecular consequence:
  • NM_001370752.1:c.1015+136C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3010C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000060.4:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000888007Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Feb 27, 2020) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV005325651GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 12, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.

Funghini S, Donati MA, Pasquini E, Gasperini S, Ciani F, Morrone A, Zammarchi E.

J Inherit Metab Dis. 2002 Aug;25(4):328-30.

PubMed [citation]
PMID:
12227467

[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].

Couce ML, Pérez-Cerdá C, García Silva MT, García Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol J, Fraga JM, Pérez B, Ugarte M.

Med Clin (Barc). 2011 Oct 22;137(11):500-3. doi: 10.1016/j.medcli.2011.01.018. Epub 2011 Jul 12. Spanish.

PubMed [citation]
PMID:
21752405
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888007.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV005325651.1

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

Description

Identified in the compound heterozygous state with a second BTD variant in an individual with partial biotinidase deficiency in the published literature (Funghini et al., 2002); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Also known as p.(T404I); This variant is associated with the following publications: (PMID: 21752405, 31980526, 12227467)

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

Last Updated: Oct 8, 2024