ClinVar Genomic variation as it relates to human health
NM_001370658.1(BTD):c.206del (p.Asn69fs)
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.206del (p.Asn69fs)
Variation ID: 419267 Accession: VCV000419267.3
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 3p25.1 3: 15635644 (GRCh38) [ NCBI UCSC ] 3: 15677152 (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 27, 2017 Apr 27, 2017 Jun 12, 2015 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001370658.1:c.206del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357587.1:p.Asn69fs frameshift NM_000060.4:c.266delA NP_000051.1:p.Asn89Thrfs frameshift NM_001281723.4:c.206delA NP_001268652.2:p.Asn69Thrfs frameshift NM_001281724.3:c.206del NP_001268653.2:p.Asn69fs frameshift NM_001281725.3:c.206delA NP_001268654.1:p.Asn69Thrfs frameshift NM_001281726.3:c.206delA NP_001268655.2:p.Asn69Thrfs frameshift NM_001323582.2:c.206delA NP_001310511.1:p.Asn69Thrfs frameshift NM_001370752.1:c.206del NP_001357681.1:p.Asn69fs frameshift NM_001370753.1:c.206del NP_001357682.1:p.Asn69fs frameshift NM_001407364.1:c.206delA NP_001394293.1:p.Asn69Thrfs frameshift NM_001407365.1:c.206delA NP_001394294.1:p.Asn69Thrfs frameshift NM_001407366.1:c.206delA NP_001394295.1:p.Asn69Thrfs frameshift NM_001407367.1:c.206delA NP_001394296.1:p.Asn69Thrfs frameshift NM_001407368.1:c.206delA NP_001394297.1:p.Asn69Thrfs frameshift NM_001407369.1:c.206delA NP_001394298.1:p.Asn69Thrfs frameshift NM_001407370.1:c.206delA NP_001394299.1:p.Asn69Thrfs frameshift NM_001407371.1:c.206delA NP_001394300.1:p.Asn69Thrfs frameshift NM_001407372.1:c.206delA NP_001394301.1:p.Asn69Thrfs frameshift NM_001407373.1:c.206delA NP_001394302.1:p.Asn69Thrfs frameshift NM_001407374.1:c.206delA NP_001394303.1:p.Asn69Thrfs frameshift NM_001407375.1:c.206delA NP_001394304.1:p.Asn69Thrfs frameshift NM_001407376.1:c.206delA NP_001394305.1:p.Asn69Thrfs frameshift NM_001407377.1:c.206delA NP_001394306.1:p.Asn69Thrfs frameshift NM_001407378.1:c.206delA NP_001394307.1:p.Asn69Thrfs frameshift NM_001407379.1:c.206delA NP_001394308.1:p.Asn69Thrfs frameshift NM_001407380.1:c.206delA NP_001394309.1:p.Asn69Thrfs frameshift NM_001407381.1:c.206delA NP_001394310.1:p.Asn69Thrfs frameshift NM_001407382.1:c.206delA NP_001394311.1:p.Asn69Thrfs frameshift NM_001407383.1:c.206delA NP_001394312.1:p.Asn69Thrfs frameshift NM_001407384.1:c.206delA NP_001394313.1:p.Asn69Thrfs frameshift NM_001407386.1:c.206delA NP_001394315.1:p.Asn69Thrfs frameshift NM_001407388.1:c.206delA NP_001394317.1:p.Asn69Thrfs frameshift NM_001407390.1:c.206delA NP_001394319.1:p.Asn69Thrfs frameshift NM_001407392.1:c.206delA NP_001394321.1:p.Asn69Thrfs frameshift NM_001407394.1:c.206delA NP_001394323.1:p.Asn69Thrfs frameshift NM_001407395.1:c.206delA NP_001394324.1:p.Asn69Thrfs frameshift NM_001407396.1:c.206delA NP_001394325.1:p.Asn69Thrfs frameshift NM_001407397.1:c.206delA NP_001394326.1:p.Asn69Thrfs frameshift NM_001407398.1:c.206delA NP_001394327.1:p.Asn69Thrfs frameshift NM_001407399.1:c.206delA NP_001394328.1:p.Asn69Thrfs frameshift NM_001407400.1:c.206delA NP_001394329.1:p.Asn69Thrfs frameshift NM_001407401.1:c.206delA NP_001394330.1:p.Asn69Thrfs frameshift NC_000003.12:g.15635645del NC_000003.11:g.15677152del NG_008019.2:g.39294del - Protein change
- N69fs
- Other names
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- Canonical SPDI
- NC_000003.12:15635643:AA:A
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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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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
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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
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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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Pathogenic (1) |
criteria provided, single submitter
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Jun 12, 2015 | RCV000482443.2 |
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
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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
(Jun 12, 2015)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000566959.4
First in ClinVar: Apr 27, 2017 Last updated: Apr 27, 2017 |
Comment:
The c.266delA deletion in the BTD gene causes a frameshift starting with codon Asparagine 89,changes this amino acid to a Threonine residue and creates a … (more)
The c.266delA deletion in the BTD gene causes a frameshift starting with codon Asparagine 89,changes this amino acid to a Threonine residue and creates a premature Stop codon at position 9 of thenew reading frame, denoted p.Asn89ThrfsX9. This deletion is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. Although this variant hasnot been previously reported to our knowledge, it is expected to be a 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
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 rs1064793757 ...
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.