ClinVar Genomic variation as it relates to human health
NM_001370658.1(BTD):c.248del (p.Lys83fs)
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.248del (p.Lys83fs)
Variation ID: 439451 Accession: VCV000439451.8
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 3p25.1 3: 15635684 (GRCh38) [ NCBI UCSC ] 3: 15677191 (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 Sep 30, 2017 Sep 30, 2017 Aug 10, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001370658.1:c.248del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357587.1:p.Lys83fs frameshift NM_000060.4:c.308delA NP_000051.1:p.Lys103Argfs frameshift NM_001281723.4:c.248delA NP_001268652.2:p.Lys83Argfs frameshift NM_001281724.3:c.248del NP_001268653.2:p.Lys83fs frameshift NM_001281725.3:c.248delA NP_001268654.1:p.Lys83Argfs frameshift NM_001281726.3:c.248delA NP_001268655.2:p.Lys83Argfs frameshift NM_001323582.2:c.248delA NP_001310511.1:p.Lys83Argfs frameshift NM_001370752.1:c.248del NP_001357681.1:p.Lys83fs frameshift NM_001370753.1:c.248del NP_001357682.1:p.Lys83fs frameshift NM_001407364.1:c.248delA NP_001394293.1:p.Lys83Argfs frameshift NM_001407365.1:c.248delA NP_001394294.1:p.Lys83Argfs frameshift NM_001407366.1:c.248delA NP_001394295.1:p.Lys83Argfs frameshift NM_001407367.1:c.248delA NP_001394296.1:p.Lys83Argfs frameshift NM_001407368.1:c.248delA NP_001394297.1:p.Lys83Argfs frameshift NM_001407369.1:c.248delA NP_001394298.1:p.Lys83Argfs frameshift NM_001407370.1:c.248delA NP_001394299.1:p.Lys83Argfs frameshift NM_001407371.1:c.248delA NP_001394300.1:p.Lys83Argfs frameshift NM_001407372.1:c.248delA NP_001394301.1:p.Lys83Argfs frameshift NM_001407373.1:c.248delA NP_001394302.1:p.Lys83Argfs frameshift NM_001407374.1:c.248delA NP_001394303.1:p.Lys83Argfs frameshift NM_001407375.1:c.248delA NP_001394304.1:p.Lys83Argfs frameshift NM_001407376.1:c.248delA NP_001394305.1:p.Lys83Argfs frameshift NM_001407377.1:c.248delA NP_001394306.1:p.Lys83Argfs frameshift NM_001407378.1:c.248delA NP_001394307.1:p.Lys83Argfs frameshift NM_001407379.1:c.248delA NP_001394308.1:p.Lys83Argfs frameshift NM_001407380.1:c.248delA NP_001394309.1:p.Lys83Argfs frameshift NM_001407381.1:c.248delA NP_001394310.1:p.Lys83Argfs frameshift NM_001407382.1:c.248delA NP_001394311.1:p.Lys83Argfs frameshift NM_001407383.1:c.248delA NP_001394312.1:p.Lys83Argfs frameshift NM_001407384.1:c.248delA NP_001394313.1:p.Lys83Argfs frameshift NM_001407386.1:c.248delA NP_001394315.1:p.Lys83Argfs frameshift NM_001407388.1:c.248delA NP_001394317.1:p.Lys83Argfs frameshift NM_001407390.1:c.248delA NP_001394319.1:p.Lys83Argfs frameshift NM_001407392.1:c.248delA NP_001394321.1:p.Lys83Argfs frameshift NM_001407394.1:c.248delA NP_001394323.1:p.Lys83Argfs frameshift NM_001407395.1:c.248delA NP_001394324.1:p.Lys83Argfs frameshift NM_001407396.1:c.248delA NP_001394325.1:p.Lys83Argfs frameshift NM_001407397.1:c.248delA NP_001394326.1:p.Lys83Argfs frameshift NM_001407398.1:c.248delA NP_001394327.1:p.Lys83Argfs frameshift NM_001407399.1:c.248delA NP_001394328.1:p.Lys83Argfs frameshift NM_001407400.1:c.248delA NP_001394329.1:p.Lys83Argfs frameshift NM_001407401.1:c.248delA NP_001394330.1:p.Lys83Argfs frameshift NC_000003.12:g.15635687del NC_000003.11:g.15677194del NG_008019.2:g.39336del - Protein change
- K83fs
- Other names
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- Canonical SPDI
- NC_000003.12:15635683:AAAA:AAA
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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
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
Help
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 |
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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Aug 10, 2016 | RCV000507351.8 |
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
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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Likely pathogenic
(Aug 10, 2016)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602895.1
First in ClinVar: Sep 30, 2017 Last updated: Sep 30, 2017 |
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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 rs1553652177 ...
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.