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NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) AND Biotinidase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 10, 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:
RCV000032017.7

Allele description [Variation Report for NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)]

NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)
Other names:
E64D
HGVS:
  • NC_000003.12:g.15635571G>C
  • NG_008019.2:g.39220G>C
  • NM_000060.4:c.192G>C
  • NM_001281723.4:c.132G>C
  • NM_001281724.3:c.132G>C
  • NM_001281725.3:c.132G>C
  • NM_001281726.3:c.132G>C
  • NM_001323582.2:c.132G>C
  • NM_001370658.1:c.132G>CMANE SELECT
  • NM_001370752.1:c.132G>C
  • NM_001370753.1:c.132G>C
  • NM_001407364.1:c.132G>C
  • NM_001407365.1:c.132G>C
  • NM_001407366.1:c.132G>C
  • NM_001407367.1:c.132G>C
  • NM_001407368.1:c.132G>C
  • NM_001407369.1:c.132G>C
  • NM_001407370.1:c.132G>C
  • NM_001407371.1:c.132G>C
  • NM_001407372.1:c.132G>C
  • NM_001407373.1:c.132G>C
  • NM_001407374.1:c.132G>C
  • NM_001407375.1:c.132G>C
  • NM_001407376.1:c.132G>C
  • NM_001407377.1:c.132G>C
  • NM_001407378.1:c.132G>C
  • NM_001407379.1:c.132G>C
  • NM_001407380.1:c.132G>C
  • NM_001407381.1:c.132G>C
  • NM_001407382.1:c.132G>C
  • NM_001407383.1:c.132G>C
  • NM_001407384.1:c.132G>C
  • NM_001407386.1:c.132G>C
  • NM_001407388.1:c.132G>C
  • NM_001407390.1:c.132G>C
  • NM_001407392.1:c.132G>C
  • NM_001407394.1:c.132G>C
  • NM_001407395.1:c.132G>C
  • NM_001407396.1:c.132G>C
  • NM_001407397.1:c.132G>C
  • NM_001407398.1:c.132G>C
  • NM_001407399.1:c.132G>C
  • NM_001407400.1:c.132G>C
  • NM_001407401.1:c.132G>C
  • NP_000051.1:p.Glu64Asp
  • NP_001268652.2:p.Glu44Asp
  • NP_001268652.2:p.Glu44Asp
  • NP_001268653.2:p.Glu44Asp
  • NP_001268654.1:p.Glu44Asp
  • NP_001268654.1:p.Glu44Asp
  • NP_001268655.2:p.Glu44Asp
  • NP_001268655.2:p.Glu44Asp
  • NP_001310511.1:p.Glu44Asp
  • NP_001310511.1:p.Glu44Asp
  • NP_001357587.1:p.Glu44Asp
  • NP_001357681.1:p.Glu44Asp
  • NP_001357682.1:p.Glu44Asp
  • NP_001394293.1:p.Glu44Asp
  • NP_001394294.1:p.Glu44Asp
  • NP_001394295.1:p.Glu44Asp
  • NP_001394296.1:p.Glu44Asp
  • NP_001394297.1:p.Glu44Asp
  • NP_001394298.1:p.Glu44Asp
  • NP_001394299.1:p.Glu44Asp
  • NP_001394300.1:p.Glu44Asp
  • NP_001394301.1:p.Glu44Asp
  • NP_001394302.1:p.Glu44Asp
  • NP_001394303.1:p.Glu44Asp
  • NP_001394304.1:p.Glu44Asp
  • NP_001394305.1:p.Glu44Asp
  • NP_001394306.1:p.Glu44Asp
  • NP_001394307.1:p.Glu44Asp
  • NP_001394308.1:p.Glu44Asp
  • NP_001394309.1:p.Glu44Asp
  • NP_001394310.1:p.Glu44Asp
  • NP_001394311.1:p.Glu44Asp
  • NP_001394312.1:p.Glu44Asp
  • NP_001394313.1:p.Glu44Asp
  • NP_001394315.1:p.Glu44Asp
  • NP_001394317.1:p.Glu44Asp
  • NP_001394319.1:p.Glu44Asp
  • NP_001394321.1:p.Glu44Asp
  • NP_001394323.1:p.Glu44Asp
  • NP_001394324.1:p.Glu44Asp
  • NP_001394325.1:p.Glu44Asp
  • NP_001394326.1:p.Glu44Asp
  • NP_001394327.1:p.Glu44Asp
  • NP_001394328.1:p.Glu44Asp
  • NP_001394329.1:p.Glu44Asp
  • NP_001394330.1:p.Glu44Asp
  • NC_000003.11:g.15677078G>C
  • NM_001281723.3:c.132G>C
  • NM_001281724.1:c.198G>C
  • NM_001281725.2:c.132G>C
  • NM_001281726.2:c.132G>C
  • NM_001323582.1:c.132G>C
Protein change:
E44D
Links:
dbSNP: rs397514436
NCBI 1000 Genomes Browser:
rs397514436
Molecular consequence:
  • NM_000060.4:c.192G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281726.3:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370752.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370753.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407379.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407380.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407381.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407382.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407383.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407384.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407386.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407388.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407390.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407392.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407394.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407395.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407396.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407397.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407398.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407399.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407400.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407401.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001514641Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 10, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Seventeen novel mutations that cause profound biotinidase deficiency.

Wolf B, Jensen K, Hüner G, Demirkol M, Baykal T, Divry P, Rolland MO, Perez-Cerdá C, Ugarte M, Straussberg R, Basel-Vanagaite L, Baumgartner ER, Suormala T, Scholl S, Das AM, Schweitzer S, Pronicka E, Sykut-Cegielska J.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):108-11.

PubMed [citation]
PMID:
12359137

Forty-eight novel mutations causing biotinidase deficiency.

Procter M, Wolf B, Mao R.

Mol Genet Metab. 2016 Mar;117(3):369-72. doi: 10.1016/j.ymgme.2016.01.002. Epub 2016 Jan 12.

PubMed [citation]
PMID:
26810761
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001514641.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Glu64 amino acid residue in BTD. Other variant(s) that disrupt this residue have been observed in individuals with BTD-related conditions (PMID: 12359137), which suggests that this may be a clinically significant amino acid residue. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BTD protein function. ClinVar contains an entry for this variant (Variation ID: 38574). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 26810761; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 64 of the BTD protein (p.Glu64Asp).

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

Last Updated: Feb 20, 2024