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NM_001370658.1(BTD):c.727G>T (p.Val243Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 3, 2022
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:
RCV002624678.2

Allele description [Variation Report for NM_001370658.1(BTD):c.727G>T (p.Val243Leu)]

NM_001370658.1(BTD):c.727G>T (p.Val243Leu)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.727G>T (p.Val243Leu)
HGVS:
  • NC_000003.12:g.15644643G>T
  • NG_008019.2:g.48292G>T
  • NG_008019.3:g.48293G>T
  • NM_000060.2:c.787G>T
  • NM_001281723.4:c.727G>T
  • NM_001281724.3:c.727G>T
  • NM_001281725.3:c.727G>T
  • NM_001281726.2:c.*2505G>T
  • NM_001323582.2:c.727G>T
  • NM_001370658.1:c.727G>TMANE SELECT
  • NM_001370752.1:c.727G>T
  • NM_001370753.1:c.399+2586G>T
  • NM_001407364.1:c.727G>T
  • NM_001407365.1:c.727G>T
  • NM_001407366.1:c.727G>T
  • NM_001407367.1:c.727G>T
  • NM_001407368.1:c.727G>T
  • NM_001407369.1:c.727G>T
  • NM_001407370.1:c.727G>T
  • NM_001407371.1:c.727G>T
  • NM_001407372.1:c.727G>T
  • NM_001407373.1:c.727G>T
  • NM_001407374.1:c.727G>T
  • NM_001407375.1:c.727G>T
  • NM_001407376.1:c.727G>T
  • NM_001407377.1:c.727G>T
  • NM_001407378.1:c.727G>T
  • NM_001407379.1:c.727G>T
  • NM_001407380.1:c.399+2586G>T
  • NM_001407398.1:c.399+2586G>T
  • NM_001407399.1:c.399+2586G>T
  • NM_001407400.1:c.399+2586G>T
  • NM_001407401.1:c.399+2586G>T
  • NP_001268652.2:p.Val243Leu
  • NP_001268653.2:p.Val243Leu
  • NP_001268654.1:p.Val243Leu
  • NP_001310511.1:p.Val243Leu
  • NP_001357587.1:p.Val243Leu
  • NP_001357681.1:p.Val243Leu
  • NP_001394293.1:p.Val243Leu
  • NP_001394294.1:p.Val243Leu
  • NP_001394295.1:p.Val243Leu
  • NP_001394296.1:p.Val243Leu
  • NP_001394297.1:p.Val243Leu
  • NP_001394298.1:p.Val243Leu
  • NP_001394299.1:p.Val243Leu
  • NP_001394300.1:p.Val243Leu
  • NP_001394301.1:p.Val243Leu
  • NP_001394302.1:p.Val243Leu
  • NP_001394303.1:p.Val243Leu
  • NP_001394304.1:p.Val243Leu
  • NP_001394305.1:p.Val243Leu
  • NP_001394306.1:p.Val243Leu
  • NP_001394307.1:p.Val243Leu
  • NP_001394308.1:p.Val243Leu
  • NC_000003.11:g.15686150G>T
Protein change:
V243L
Molecular consequence:
  • NM_001370753.1:c.399+2586G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407380.1:c.399+2586G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407398.1:c.399+2586G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407399.1:c.399+2586G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407400.1:c.399+2586G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407401.1:c.399+2586G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281723.4:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370752.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407379.1:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003752713Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 3, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003752713.2

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

Description

The c.787G>T (p.V263L) alteration is located in exon 4 (coding exon 4) of the BTD gene. This alteration results from a G to T substitution at nucleotide position 787, causing the valine (V) at amino acid position 263 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024