ClinVar Genomic variation as it relates to human health
NM_001370658.1(BTD):c.38_44del (p.Cys13fs)
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.38_44del (p.Cys13fs)
Variation ID: 3065157 Accession: VCV003065157.1
- Type and length
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Deletion, 7 bp
- Location
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Cytogenetic: 3p25.1 3: 15635477-15635483 (GRCh38) [ NCBI UCSC ] 3: 15676984-15676990 (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 Apr 6, 2024 Apr 6, 2024 Mar 26, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001370658.1:c.38_44del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357587.1:p.Cys13fs frameshift NM_000060.2:c.98_104del NM_001281723.4:c.38_44del NP_001268652.2:p.Cys13fs frameshift NM_001281724.3:c.38_44del NP_001268653.2:p.Cys13fs frameshift NM_001281725.3:c.38_44del NP_001268654.1:p.Cys13fs frameshift NM_001281726.3:c.38_44del NP_001268655.2:p.Cys13fs frameshift NM_001323582.2:c.38_44del NP_001310511.1:p.Cys13fs frameshift NM_001370752.1:c.38_44del NP_001357681.1:p.Cys13fs frameshift NM_001370753.1:c.38_44del NP_001357682.1:p.Cys13fs frameshift NM_001407364.1:c.38_44del NP_001394293.1:p.Cys13fs frameshift NM_001407365.1:c.38_44del NP_001394294.1:p.Cys13fs frameshift NM_001407366.1:c.38_44del NP_001394295.1:p.Cys13fs frameshift NM_001407367.1:c.38_44del NP_001394296.1:p.Cys13fs frameshift NM_001407368.1:c.38_44del NP_001394297.1:p.Cys13fs frameshift NM_001407369.1:c.38_44del NP_001394298.1:p.Cys13fs frameshift NM_001407370.1:c.38_44del NP_001394299.1:p.Cys13fs frameshift NM_001407371.1:c.38_44del NP_001394300.1:p.Cys13fs frameshift NM_001407372.1:c.38_44del NP_001394301.1:p.Cys13fs frameshift NM_001407373.1:c.38_44del NP_001394302.1:p.Cys13fs frameshift NM_001407374.1:c.38_44del NP_001394303.1:p.Cys13fs frameshift NM_001407375.1:c.38_44del NP_001394304.1:p.Cys13fs frameshift NM_001407376.1:c.38_44del NP_001394305.1:p.Cys13fs frameshift NM_001407377.1:c.38_44del NP_001394306.1:p.Cys13fs frameshift NM_001407378.1:c.38_44del NP_001394307.1:p.Cys13fs frameshift NM_001407379.1:c.38_44del NP_001394308.1:p.Cys13fs frameshift NM_001407380.1:c.38_44del NP_001394309.1:p.Cys13fs frameshift NM_001407381.1:c.38_44del NP_001394310.1:p.Cys13fs frameshift NM_001407382.1:c.38_44del NP_001394311.1:p.Cys13fs frameshift NM_001407383.1:c.38_44del NP_001394312.1:p.Cys13fs frameshift NM_001407384.1:c.38_44del NP_001394313.1:p.Cys13fs frameshift NM_001407386.1:c.38_44del NP_001394315.1:p.Cys13fs frameshift NM_001407388.1:c.38_44del NP_001394317.1:p.Cys13fs frameshift NM_001407390.1:c.38_44del NP_001394319.1:p.Cys13fs frameshift NM_001407392.1:c.38_44del NP_001394321.1:p.Cys13fs frameshift NM_001407394.1:c.38_44del NP_001394323.1:p.Cys13fs frameshift NM_001407395.1:c.38_44del NP_001394324.1:p.Cys13fs frameshift NM_001407396.1:c.38_44del NP_001394325.1:p.Cys13fs frameshift NM_001407397.1:c.38_44del NP_001394326.1:p.Cys13fs frameshift NM_001407398.1:c.38_44del NP_001394327.1:p.Cys13fs frameshift NM_001407399.1:c.38_44del NP_001394328.1:p.Cys13fs frameshift NM_001407400.1:c.38_44del NP_001394329.1:p.Cys13fs frameshift NM_001407401.1:c.38_44del NP_001394330.1:p.Cys13fs frameshift NC_000003.12:g.15635477_15635483del NC_000003.11:g.15676984_15676990del NG_008019.3:g.39127_39133del - Protein change
- C13fs
- Other names
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- Canonical SPDI
- NC_000003.12:15635476:GCGGCTG:
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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 | ||
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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
Help
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
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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| Uncertain significance (1) |
criteria provided, single submitter
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Mar 26, 2024 | RCV003990234.2 |
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
Help
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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Uncertain significance
(Mar 26, 2024)
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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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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004806669.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
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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.