ClinVar Genomic variation as it relates to human health
NM_001370658.1(BTD):c.270del (p.Pro91fs)
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.270del (p.Pro91fs)
Variation ID: 1804727 Accession: VCV001804727.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 3p25.1 3: 15641926 (GRCh38) [ NCBI UCSC ] 3: 15683433 (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 24, 2022 Dec 24, 2022 Nov 3, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001370658.1:c.270del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357587.1:p.Pro91fs frameshift NM_001370658.1:c.270delT MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
frameshift NM_000060.4:c.330delT NP_000051.1:p.Pro111Glnfs frameshift NM_001281723.4:c.270delT NP_001268652.2:p.Pro91Glnfs frameshift NM_001281724.3:c.270del NP_001268653.2:p.Pro91fs frameshift NM_001281725.3:c.270delT NP_001268654.1:p.Pro91Glnfs frameshift NM_001281726.3:c.270delT NP_001268655.2:p.Pro91Glnfs frameshift NM_001323582.2:c.270delT NP_001310511.1:p.Pro91Glnfs frameshift NM_001370752.1:c.270del NP_001357681.1:p.Pro91fs frameshift NM_001370753.1:c.270del NP_001357682.1:p.Pro91fs frameshift NM_001407364.1:c.270delT NP_001394293.1:p.Pro91Glnfs frameshift NM_001407365.1:c.270delT NP_001394294.1:p.Pro91Glnfs frameshift NM_001407366.1:c.270delT NP_001394295.1:p.Pro91Glnfs frameshift NM_001407367.1:c.270delT NP_001394296.1:p.Pro91Glnfs frameshift NM_001407368.1:c.270delT NP_001394297.1:p.Pro91Glnfs frameshift NM_001407369.1:c.270delT NP_001394298.1:p.Pro91Glnfs frameshift NM_001407370.1:c.270delT NP_001394299.1:p.Pro91Glnfs frameshift NM_001407371.1:c.270delT NP_001394300.1:p.Pro91Glnfs frameshift NM_001407372.1:c.270delT NP_001394301.1:p.Pro91Glnfs frameshift NM_001407373.1:c.270delT NP_001394302.1:p.Pro91Glnfs frameshift NM_001407374.1:c.270delT NP_001394303.1:p.Pro91Glnfs frameshift NM_001407375.1:c.270delT NP_001394304.1:p.Pro91Glnfs frameshift NM_001407376.1:c.270delT NP_001394305.1:p.Pro91Glnfs frameshift NM_001407377.1:c.270delT NP_001394306.1:p.Pro91Glnfs frameshift NM_001407378.1:c.270delT NP_001394307.1:p.Pro91Glnfs frameshift NM_001407379.1:c.270delT NP_001394308.1:p.Pro91Glnfs frameshift NM_001407380.1:c.270delT NP_001394309.1:p.Pro91Glnfs frameshift NM_001407381.1:c.333delT NP_001394310.1:p.Pro112Glnfs frameshift NM_001407382.1:c.270delT NP_001394311.1:p.Pro91Glnfs frameshift NM_001407383.1:c.270delT NP_001394312.1:p.Pro91Glnfs frameshift NM_001407384.1:c.270delT NP_001394313.1:p.Pro91Glnfs frameshift NM_001407386.1:c.270delT NP_001394315.1:p.Pro91Glnfs frameshift NM_001407388.1:c.270delT NP_001394317.1:p.Pro91Glnfs frameshift NM_001407390.1:c.270delT NP_001394319.1:p.Pro91Glnfs frameshift NM_001407392.1:c.270delT NP_001394321.1:p.Pro91Glnfs frameshift NM_001407394.1:c.270delT NP_001394323.1:p.Pro91Glnfs frameshift NM_001407395.1:c.270delT NP_001394324.1:p.Pro91Glnfs frameshift NM_001407396.1:c.270delT NP_001394325.1:p.Pro91Glnfs frameshift NM_001407397.1:c.270delT NP_001394326.1:p.Pro91Glnfs frameshift NM_001407398.1:c.270delT NP_001394327.1:p.Pro91Glnfs frameshift NM_001407399.1:c.270delT NP_001394328.1:p.Pro91Glnfs frameshift NM_001407400.1:c.270delT NP_001394329.1:p.Pro91Glnfs frameshift NM_001407401.1:c.270delT NP_001394330.1:p.Pro91Glnfs frameshift NC_000003.12:g.15641928del NC_000003.11:g.15683435del NG_008019.3:g.45578del - Protein change
- P91fs
- Other names
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- Canonical SPDI
- NC_000003.12:15641925:TTT:TT
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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
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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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Likely pathogenic (1) |
criteria provided, single submitter
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Nov 3, 2022 | RCV002470024.1 |
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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Likely pathogenic
(Nov 03, 2022)
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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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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002766164.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
Variant summary: BTD c.270delT (p.Pro91GlnfsX48) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BTD c.270delT (p.Pro91GlnfsX48) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic within ClinVar (e.g. c.527del [p.Thr176fs], c.873del [p.Ser291fs]). The variant was absent in 250190 control chromosomes (gnomAD). To our knowledge, no occurrence of c.270delT in individuals affected with Biotinidase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely 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 this variant ...
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.