ClinVar Genomic variation as it relates to human health
NM_001370658.1(BTD):c.58_59del (p.Leu20fs)
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.58_59del (p.Leu20fs)
Variation ID: 550208 Accession: VCV000550208.2
- Type and length
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Deletion, 2 bp
- Location
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Cytogenetic: 3p25.1 3: 15635497-15635498 (GRCh38) [ NCBI UCSC ] 3: 15677004-15677005 (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 Aug 5, 2018 Aug 5, 2018 Jan 3, 2017 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001370658.1:c.58_59del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357587.1:p.Leu20fs frameshift NM_000060.4:c.118_119delCT NP_000051.1:p.Leu40Glyfs frameshift NM_001281723.4:c.58_59delCT NP_001268652.2:p.Leu20Glyfs frameshift NM_001281724.3:c.58_59del NP_001268653.2:p.Leu20fs frameshift NM_001281725.3:c.58_59delCT NP_001268654.1:p.Leu20Glyfs frameshift NM_001281726.3:c.58_59delCT NP_001268655.2:p.Leu20Glyfs frameshift NM_001323582.2:c.58_59delCT NP_001310511.1:p.Leu20Glyfs frameshift NM_001370752.1:c.58_59del NP_001357681.1:p.Leu20fs frameshift NM_001370753.1:c.58_59del NP_001357682.1:p.Leu20fs frameshift NM_001407364.1:c.58_59delCT NP_001394293.1:p.Leu20Glyfs frameshift NM_001407365.1:c.58_59delCT NP_001394294.1:p.Leu20Glyfs frameshift NM_001407366.1:c.58_59delCT NP_001394295.1:p.Leu20Glyfs frameshift NM_001407367.1:c.58_59delCT NP_001394296.1:p.Leu20Glyfs frameshift NM_001407368.1:c.58_59delCT NP_001394297.1:p.Leu20Glyfs frameshift NM_001407369.1:c.58_59delCT NP_001394298.1:p.Leu20Glyfs frameshift NM_001407370.1:c.58_59delCT NP_001394299.1:p.Leu20Glyfs frameshift NM_001407371.1:c.58_59delCT NP_001394300.1:p.Leu20Glyfs frameshift NM_001407372.1:c.58_59delCT NP_001394301.1:p.Leu20Glyfs frameshift NM_001407373.1:c.58_59delCT NP_001394302.1:p.Leu20Glyfs frameshift NM_001407374.1:c.58_59delCT NP_001394303.1:p.Leu20Glyfs frameshift NM_001407375.1:c.58_59delCT NP_001394304.1:p.Leu20Glyfs frameshift NM_001407376.1:c.58_59delCT NP_001394305.1:p.Leu20Glyfs frameshift NM_001407377.1:c.58_59delCT NP_001394306.1:p.Leu20Glyfs frameshift NM_001407378.1:c.58_59delCT NP_001394307.1:p.Leu20Glyfs frameshift NM_001407379.1:c.58_59delCT NP_001394308.1:p.Leu20Glyfs frameshift NM_001407380.1:c.58_59delCT NP_001394309.1:p.Leu20Glyfs frameshift NM_001407381.1:c.58_59delCT NP_001394310.1:p.Leu20Glyfs frameshift NM_001407382.1:c.58_59delCT NP_001394311.1:p.Leu20Glyfs frameshift NM_001407383.1:c.58_59delCT NP_001394312.1:p.Leu20Glyfs frameshift NM_001407384.1:c.58_59delCT NP_001394313.1:p.Leu20Glyfs frameshift NM_001407386.1:c.58_59delCT NP_001394315.1:p.Leu20Glyfs frameshift NM_001407388.1:c.58_59delCT NP_001394317.1:p.Leu20Glyfs frameshift NM_001407390.1:c.58_59delCT NP_001394319.1:p.Leu20Glyfs frameshift NM_001407392.1:c.58_59delCT NP_001394321.1:p.Leu20Glyfs frameshift NM_001407394.1:c.58_59delCT NP_001394323.1:p.Leu20Glyfs frameshift NM_001407395.1:c.58_59delCT NP_001394324.1:p.Leu20Glyfs frameshift NM_001407396.1:c.58_59delCT NP_001394325.1:p.Leu20Glyfs frameshift NM_001407397.1:c.58_59delCT NP_001394326.1:p.Leu20Glyfs frameshift NM_001407398.1:c.58_59delCT NP_001394327.1:p.Leu20Glyfs frameshift NM_001407399.1:c.58_59delCT NP_001394328.1:p.Leu20Glyfs frameshift NM_001407400.1:c.58_59delCT NP_001394329.1:p.Leu20Glyfs frameshift NM_001407401.1:c.58_59delCT NP_001394330.1:p.Leu20Glyfs frameshift NC_000003.12:g.15635497_15635498del NC_000003.11:g.15677004_15677005del NG_008019.2:g.39146_39147del - Protein change
- L20fs
- Other names
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- Canonical SPDI
- NC_000003.12:15635496:CT:
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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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Likely pathogenic (1) |
criteria provided, single submitter
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Jan 3, 2017 | RCV000664888.2 |
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
Help
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
(Jan 03, 2017)
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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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Counsyl
Accession: SCV000788915.1
First in ClinVar: Aug 05, 2018 Last updated: Aug 05, 2018 |
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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
HelpThere 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 rs1553652080 ...
HelpRecord last updated Mar 26, 2023
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.