ClinVar Genomic variation as it relates to human health
NM_001370658.1(BTD):c.52del (p.Val18fs)
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.52del (p.Val18fs)
Variation ID: 2680360 Accession: VCV002680360.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 3p25.1 3: 15635490 (GRCh38) [ NCBI UCSC ] 3: 15676997 (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 Dec 30, 2023 Dec 30, 2023 Mar 9, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001370658.1:c.52del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357587.1:p.Val18fs frameshift NM_000060.4:c.112del NM_001281723.4:c.52del NP_001268652.2:p.Val18fs frameshift NM_001281724.3:c.52del NP_001268653.2:p.Val18fs frameshift NM_001281725.3:c.52del NP_001268654.1:p.Val18fs frameshift NM_001281726.3:c.52del NP_001268655.2:p.Val18fs frameshift NM_001323582.2:c.52del NP_001310511.1:p.Val18fs frameshift NM_001370752.1:c.52del NP_001357681.1:p.Val18fs frameshift NM_001370753.1:c.52del NP_001357682.1:p.Val18fs frameshift NM_001407364.1:c.52del NP_001394293.1:p.Val18fs frameshift NM_001407365.1:c.52del NP_001394294.1:p.Val18fs frameshift NM_001407366.1:c.52del NP_001394295.1:p.Val18fs frameshift NM_001407367.1:c.52del NP_001394296.1:p.Val18fs frameshift NM_001407368.1:c.52del NP_001394297.1:p.Val18fs frameshift NM_001407369.1:c.52del NP_001394298.1:p.Val18fs frameshift NM_001407370.1:c.52del NP_001394299.1:p.Val18fs frameshift NM_001407371.1:c.52del NP_001394300.1:p.Val18fs frameshift NM_001407372.1:c.52del NP_001394301.1:p.Val18fs frameshift NM_001407373.1:c.52del NP_001394302.1:p.Val18fs frameshift NM_001407374.1:c.52del NP_001394303.1:p.Val18fs frameshift NM_001407375.1:c.52del NP_001394304.1:p.Val18fs frameshift NM_001407376.1:c.52del NP_001394305.1:p.Val18fs frameshift NM_001407377.1:c.52del NP_001394306.1:p.Val18fs frameshift NM_001407378.1:c.52del NP_001394307.1:p.Val18fs frameshift NM_001407379.1:c.52del NP_001394308.1:p.Val18fs frameshift NM_001407380.1:c.52del NP_001394309.1:p.Val18fs frameshift NM_001407381.1:c.52del NP_001394310.1:p.Val18fs frameshift NM_001407382.1:c.52del NP_001394311.1:p.Val18fs frameshift NM_001407383.1:c.52del NP_001394312.1:p.Val18fs frameshift NM_001407384.1:c.52del NP_001394313.1:p.Val18fs frameshift NM_001407386.1:c.52del NP_001394315.1:p.Val18fs frameshift NM_001407388.1:c.52del NP_001394317.1:p.Val18fs frameshift NM_001407390.1:c.52del NP_001394319.1:p.Val18fs frameshift NM_001407392.1:c.52del NP_001394321.1:p.Val18fs frameshift NM_001407394.1:c.52del NP_001394323.1:p.Val18fs frameshift NM_001407395.1:c.52del NP_001394324.1:p.Val18fs frameshift NM_001407396.1:c.52del NP_001394325.1:p.Val18fs frameshift NM_001407397.1:c.52del NP_001394326.1:p.Val18fs frameshift NM_001407398.1:c.52del NP_001394327.1:p.Val18fs frameshift NM_001407399.1:c.52del NP_001394328.1:p.Val18fs frameshift NM_001407400.1:c.52del NP_001394329.1:p.Val18fs frameshift NM_001407401.1:c.52del NP_001394330.1:p.Val18fs frameshift NC_000003.12:g.15635491del NC_000003.11:g.15676998del NG_008019.3:g.39141del - Protein change
- V18fs
- Other names
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- Canonical SPDI
- NC_000003.12:15635489:GG:G
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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
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| 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 |
667 | 753 | |
Conditions - Germline
| Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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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| Likely pathogenic (1) |
criteria provided, single submitter
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Mar 9, 2023 | RCV003474467.1 |
Submissions - Germline
| Classification
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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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Likely pathogenic
(Mar 09, 2023)
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criteria provided, single submitter
Method: clinical testing
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Biotinidase deficiency
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004211475.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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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
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Sep 01, 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.