ClinVar Genomic variation as it relates to human health
NM_001370658.1(BTD):c.282del (p.Ile95fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001370658.1(BTD):c.282del (p.Ile95fs)
Variation ID: 935341 Accession: VCV000935341.9
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 3p25.1 3: 15641940 (GRCh38) [ NCBI UCSC ] 3: 15683447 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jul 16, 2020 Feb 20, 2024 Feb 17, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001370658.1:c.282del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357587.1:p.Ile95fs frameshift NM_000060.4:c.342delC NP_000051.1:p.Ile115Phefs frameshift NM_001281723.4:c.282delC NP_001268652.2:p.Ile95Phefs frameshift NM_001281724.3:c.282del NP_001268653.2:p.Ile95fs frameshift NM_001281725.3:c.282delC NP_001268654.1:p.Ile95Phefs frameshift NM_001281726.3:c.282delC NP_001268655.2:p.Ile95Phefs frameshift NM_001323582.2:c.282delC NP_001310511.1:p.Ile95Phefs frameshift NM_001370752.1:c.282del NP_001357681.1:p.Ile95fs frameshift NM_001370753.1:c.282del NP_001357682.1:p.Ile95fs frameshift NM_001407364.1:c.282delC NP_001394293.1:p.Ile95Phefs frameshift NM_001407365.1:c.282delC NP_001394294.1:p.Ile95Phefs frameshift NM_001407366.1:c.282delC NP_001394295.1:p.Ile95Phefs frameshift NM_001407367.1:c.282delC NP_001394296.1:p.Ile95Phefs frameshift NM_001407368.1:c.282delC NP_001394297.1:p.Ile95Phefs frameshift NM_001407369.1:c.282delC NP_001394298.1:p.Ile95Phefs frameshift NM_001407370.1:c.282delC NP_001394299.1:p.Ile95Phefs frameshift NM_001407371.1:c.282delC NP_001394300.1:p.Ile95Phefs frameshift NM_001407372.1:c.282delC NP_001394301.1:p.Ile95Phefs frameshift NM_001407373.1:c.282delC NP_001394302.1:p.Ile95Phefs frameshift NM_001407374.1:c.282delC NP_001394303.1:p.Ile95Phefs frameshift NM_001407375.1:c.282delC NP_001394304.1:p.Ile95Phefs frameshift NM_001407376.1:c.282delC NP_001394305.1:p.Ile95Phefs frameshift NM_001407377.1:c.282delC NP_001394306.1:p.Ile95Phefs frameshift NM_001407378.1:c.282delC NP_001394307.1:p.Ile95Phefs frameshift NM_001407379.1:c.282delC NP_001394308.1:p.Ile95Phefs frameshift NM_001407380.1:c.282delC NP_001394309.1:p.Ile95Phefs frameshift NM_001407381.1:c.345delC NP_001394310.1:p.Ile116Phefs frameshift NM_001407382.1:c.282delC NP_001394311.1:p.Ile95Phefs frameshift NM_001407383.1:c.282delC NP_001394312.1:p.Ile95Phefs frameshift NM_001407384.1:c.282delC NP_001394313.1:p.Ile95Phefs frameshift NM_001407386.1:c.282delC NP_001394315.1:p.Ile95Phefs frameshift NM_001407388.1:c.282delC NP_001394317.1:p.Ile95Phefs frameshift NM_001407390.1:c.282delC NP_001394319.1:p.Ile95Phefs frameshift NM_001407392.1:c.282delC NP_001394321.1:p.Ile95Phefs frameshift NM_001407394.1:c.282delC NP_001394323.1:p.Ile95Phefs frameshift NM_001407395.1:c.282delC NP_001394324.1:p.Ile95Phefs frameshift NM_001407396.1:c.282delC NP_001394325.1:p.Ile95Phefs frameshift NM_001407397.1:c.282delC NP_001394326.1:p.Ile95Phefs frameshift NM_001407398.1:c.282delC NP_001394327.1:p.Ile95Phefs frameshift NM_001407399.1:c.282delC NP_001394328.1:p.Ile95Phefs frameshift NM_001407400.1:c.282delC NP_001394329.1:p.Ile95Phefs frameshift NM_001407401.1:c.282delC NP_001394330.1:p.Ile95Phefs frameshift NC_000003.12:g.15641940del NC_000003.11:g.15683447del NG_008019.2:g.45589del - Protein change
- I95fs
- Other names
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- Canonical SPDI
- NC_000003.12:15641939:C:
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BTD | - | - |
GRCh38 GRCh37 |
645 | 705 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
criteria provided, single submitter
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Feb 17, 2022 | RCV001203912.8 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Feb 17, 2022)
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criteria provided, single submitter
Method: clinical testing
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Biotinidase deficiency
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001375094.5
First in ClinVar: Jul 16, 2020 Last updated: Feb 20, 2024 |
Comment:
This variant disrupts a region of the BTD protein in which other variant(s) (p.Ser311Argfs*23) have been determined to be pathogenic (PMID: 9396567, 10400129, 12359137, 17185019, … (more)
This variant disrupts a region of the BTD protein in which other variant(s) (p.Ser311Argfs*23) have been determined to be pathogenic (PMID: 9396567, 10400129, 12359137, 17185019, 22698809, 25174816). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 935341). This variant has not been reported in the literature in individuals affected with BTD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile115Phefs*44) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 429 amino acid(s) of the BTD protein. For these reasons, this variant has been classified as Pathogenic. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. | Borsatto T | BMC medical genetics | 2014 | PMID: 25174816 |
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. | Cowan TM | Molecular genetics and metabolism | 2012 | PMID: 22698809 |
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary. | Milánkovics I | Molecular genetics and metabolism | 2007 | PMID: 17185019 |
Seventeen novel mutations that cause profound biotinidase deficiency. | Wolf B | Molecular genetics and metabolism | 2002 | PMID: 12359137 |
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. | Norrgard KJ | Pediatric research | 1999 | PMID: 10400129 |
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. | Pomponio RJ | Pediatric research | 1997 | PMID: 9396567 |
Text-mined citations for rs2065521862 ...
HelpRecord last updated Feb 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.