ClinVar Genomic variation as it relates to human health
NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)
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.351_352delinsTT (p.Val118Phe)
Variation ID: 2096464 Accession: VCV002096464.2
- Type and length
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Indel, 2 bp
- Location
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Cytogenetic: 3p25.1 3: 15642009-15642010 (GRCh38) [ NCBI UCSC ] 3: 15683516-15683517 (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 Feb 8, 2023 Feb 20, 2024 Jun 15, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001370658.1:c.351_352delinsTT MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357587.1:p.Val118Phe missense NM_000060.4:c.411_412delGGinsTT NP_000051.1:p.Val138Phe missense NM_001281723.4:c.351_352delGGinsTT NP_001268652.2:p.Val118Phe missense NM_001281724.3:c.351_352delinsTT NP_001268653.2:p.Val118Phe missense NM_001281725.3:c.351_352delGGinsTT NP_001268654.1:p.Val118Phe missense NM_001281726.3:c.351_352delGGinsTT NP_001268655.2:p.Val118Phe missense NM_001323582.2:c.351_352delGGinsTT NP_001310511.1:p.Val118Phe missense NM_001370752.1:c.351_352delinsTT NP_001357681.1:p.Val118Phe missense NM_001370753.1:c.351_352delinsTT NP_001357682.1:p.Val118Phe missense NM_001407364.1:c.351_352delGGinsTT NP_001394293.1:p.Val118Phe missense NM_001407365.1:c.351_352delGGinsTT NP_001394294.1:p.Val118Phe missense NM_001407366.1:c.351_352delGGinsTT NP_001394295.1:p.Val118Phe missense NM_001407367.1:c.351_352delGGinsTT NP_001394296.1:p.Val118Phe missense NM_001407368.1:c.351_352delGGinsTT NP_001394297.1:p.Val118Phe missense NM_001407369.1:c.351_352delGGinsTT NP_001394298.1:p.Val118Phe missense NM_001407370.1:c.351_352delGGinsTT NP_001394299.1:p.Val118Phe missense NM_001407371.1:c.351_352delGGinsTT NP_001394300.1:p.Val118Phe missense NM_001407372.1:c.351_352delGGinsTT NP_001394301.1:p.Val118Phe missense NM_001407373.1:c.351_352delGGinsTT NP_001394302.1:p.Val118Phe missense NM_001407374.1:c.351_352delGGinsTT NP_001394303.1:p.Val118Phe missense NM_001407375.1:c.351_352delGGinsTT NP_001394304.1:p.Val118Phe missense NM_001407376.1:c.351_352delGGinsTT NP_001394305.1:p.Val118Phe missense NM_001407377.1:c.351_352delGGinsTT NP_001394306.1:p.Val118Phe missense NM_001407378.1:c.351_352delGGinsTT NP_001394307.1:p.Val118Phe missense NM_001407379.1:c.351_352delGGinsTT NP_001394308.1:p.Val118Phe missense NM_001407380.1:c.351_352delGGinsTT NP_001394309.1:p.Val118Phe missense NM_001407381.1:c.414_415delGGinsTT NP_001394310.1:p.Val139Phe missense NM_001407382.1:c.351_352delGGinsTT NP_001394311.1:p.Val118Phe missense NM_001407383.1:c.351_352delGGinsTT NP_001394312.1:p.Val118Phe missense NM_001407384.1:c.351_352delGGinsTT NP_001394313.1:p.Val118Phe missense NM_001407386.1:c.351_352delGGinsTT NP_001394315.1:p.Val118Phe missense NM_001407388.1:c.351_352delGGinsTT NP_001394317.1:p.Val118Phe missense NM_001407390.1:c.351_352delGGinsTT NP_001394319.1:p.Val118Phe missense NM_001407392.1:c.351_352delGGinsTT NP_001394321.1:p.Val118Phe missense NM_001407394.1:c.351_352delGGinsTT NP_001394323.1:p.Val118Phe missense NM_001407395.1:c.351_352delGGinsTT NP_001394324.1:p.Val118Phe missense NM_001407396.1:c.351_352delGGinsTT NP_001394325.1:p.Val118Phe missense NM_001407397.1:c.351_352delGGinsTT NP_001394326.1:p.Val118Phe missense NM_001407398.1:c.351_352delGGinsTT NP_001394327.1:p.Val118Phe missense NM_001407399.1:c.351_352delGGinsTT NP_001394328.1:p.Val118Phe missense NM_001407400.1:c.351_352delGGinsTT NP_001394329.1:p.Val118Phe missense NM_001407401.1:c.351_352delGGinsTT NP_001394330.1:p.Val118Phe missense NC_000003.12:g.15642009_15642010delinsTT NC_000003.11:g.15683516_15683517delinsTT NG_008019.2:g.45658_45659delinsTT NG_008019.3:g.45659_45660delinsTT - Protein change
- V139F, V118F, V138F
- Other names
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- Canonical SPDI
- NC_000003.12:15642008:GG: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
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
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
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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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Uncertain significance (1) |
criteria provided, single submitter
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Jun 15, 2022 | RCV003028222.2 |
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
(Jun 15, 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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Invitae
Accession: SCV003307437.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with BTD-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 138 of the BTD protein (p.Val138Phe). (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 Feb 20, 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.