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NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 12, 2015
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:
RCV000483575.2

Allele description [Variation Report for NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)]

NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)
HGVS:
  • NC_000003.12:g.15645249G>T
  • NG_008019.2:g.48898G>T
  • NG_008019.3:g.48899G>T
  • NM_000060.4:c.1393G>T
  • NM_001281723.4:c.1333G>T
  • NM_001281724.3:c.1333G>T
  • NM_001281725.3:c.1333G>T
  • NM_001323582.2:c.1333G>T
  • NM_001370658.1:c.1333G>TMANE SELECT
  • NM_001370752.1:c.1015+318G>T
  • NM_001370753.1:c.399+3192G>T
  • NM_001407364.1:c.1333G>T
  • NM_001407365.1:c.1333G>T
  • NM_001407366.1:c.1333G>T
  • NM_001407367.1:c.1333G>T
  • NM_001407368.1:c.1333G>T
  • NM_001407369.1:c.1333G>T
  • NM_001407370.1:c.1333G>T
  • NM_001407371.1:c.1333G>T
  • NM_001407372.1:c.1333G>T
  • NM_001407373.1:c.1333G>T
  • NM_001407374.1:c.1333G>T
  • NM_001407375.1:c.1333G>T
  • NM_001407376.1:c.1333G>T
  • NM_001407377.1:c.1333G>T
  • NM_001407378.1:c.1333G>T
  • NP_000051.1:p.Gly465Cys
  • NP_001268652.2:p.Gly445Cys
  • NP_001268652.2:p.Gly445Cys
  • NP_001268653.2:p.Gly445Cys
  • NP_001268654.1:p.Gly445Cys
  • NP_001268654.1:p.Gly445Cys
  • NP_001310511.1:p.Gly445Cys
  • NP_001310511.1:p.Gly445Cys
  • NP_001357587.1:p.Gly445Cys
  • NP_001394293.1:p.Gly445Cys
  • NP_001394294.1:p.Gly445Cys
  • NP_001394295.1:p.Gly445Cys
  • NP_001394296.1:p.Gly445Cys
  • NP_001394297.1:p.Gly445Cys
  • NP_001394298.1:p.Gly445Cys
  • NP_001394299.1:p.Gly445Cys
  • NP_001394300.1:p.Gly445Cys
  • NP_001394301.1:p.Gly445Cys
  • NP_001394302.1:p.Gly445Cys
  • NP_001394303.1:p.Gly445Cys
  • NP_001394304.1:p.Gly445Cys
  • NP_001394305.1:p.Gly445Cys
  • NP_001394306.1:p.Gly445Cys
  • NP_001394307.1:p.Gly445Cys
  • NC_000003.11:g.15686756G>T
  • NM_001281723.3:c.1333G>T
  • NM_001281725.2:c.1333G>T
  • NM_001323582.1:c.1333G>T
Protein change:
G445C
Links:
dbSNP: rs746099217
NCBI 1000 Genomes Browser:
rs746099217
Molecular consequence:
  • NM_001370752.1:c.1015+318G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3192G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000060.4:c.1393G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.1333G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000565969GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Mar 12, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000565969.4

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

Description

The G465C variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The G465C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (C463Y) have been reported in the Human Gene Mutation Database in association with biotinidase deficiency (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, the G465C variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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

Last Updated: Mar 26, 2023