ClinVar Genomic variation as it relates to human health
NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
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.177_178del (p.Gln60fs)
Variation ID: 1724160 Accession: VCV001724160.2
- Type and length
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Deletion, 2 bp
- Location
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Cytogenetic: 3p25.1 3: 15635616-15635617 (GRCh38) [ NCBI UCSC ] 3: 15677123-15677124 (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 Nov 19, 2022 Dec 24, 2022 Jan 28, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001370658.1:c.177_178del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357587.1:p.Gln60fs frameshift NM_000060.4:c.237_238delCC NP_000051.1:p.Gln80Argfs frameshift NM_001281723.4:c.177_178delCC NP_001268652.2:p.Gln60Argfs frameshift NM_001281724.3:c.177_178del NP_001268653.2:p.Gln60fs frameshift NM_001281725.3:c.177_178delCC NP_001268654.1:p.Gln60Argfs frameshift NM_001281726.3:c.177_178delCC NP_001268655.2:p.Gln60Argfs frameshift NM_001323582.2:c.177_178delCC NP_001310511.1:p.Gln60Argfs frameshift NM_001370752.1:c.177_178del NP_001357681.1:p.Gln60fs frameshift NM_001370753.1:c.177_178del NP_001357682.1:p.Gln60fs frameshift NM_001407364.1:c.177_178delCC NP_001394293.1:p.Gln60Argfs frameshift NM_001407365.1:c.177_178delCC NP_001394294.1:p.Gln60Argfs frameshift NM_001407366.1:c.177_178delCC NP_001394295.1:p.Gln60Argfs frameshift NM_001407367.1:c.177_178delCC NP_001394296.1:p.Gln60Argfs frameshift NM_001407368.1:c.177_178delCC NP_001394297.1:p.Gln60Argfs frameshift NM_001407369.1:c.177_178delCC NP_001394298.1:p.Gln60Argfs frameshift NM_001407370.1:c.177_178delCC NP_001394299.1:p.Gln60Argfs frameshift NM_001407371.1:c.177_178delCC NP_001394300.1:p.Gln60Argfs frameshift NM_001407372.1:c.177_178delCC NP_001394301.1:p.Gln60Argfs frameshift NM_001407373.1:c.177_178delCC NP_001394302.1:p.Gln60Argfs frameshift NM_001407374.1:c.177_178delCC NP_001394303.1:p.Gln60Argfs frameshift NM_001407375.1:c.177_178delCC NP_001394304.1:p.Gln60Argfs frameshift NM_001407376.1:c.177_178delCC NP_001394305.1:p.Gln60Argfs frameshift NM_001407377.1:c.177_178delCC NP_001394306.1:p.Gln60Argfs frameshift NM_001407378.1:c.177_178delCC NP_001394307.1:p.Gln60Argfs frameshift NM_001407379.1:c.177_178delCC NP_001394308.1:p.Gln60Argfs frameshift NM_001407380.1:c.177_178delCC NP_001394309.1:p.Gln60Argfs frameshift NM_001407381.1:c.177_178delCC NP_001394310.1:p.Gln60Argfs frameshift NM_001407382.1:c.177_178delCC NP_001394311.1:p.Gln60Argfs frameshift NM_001407383.1:c.177_178delCC NP_001394312.1:p.Gln60Argfs frameshift NM_001407384.1:c.177_178delCC NP_001394313.1:p.Gln60Argfs frameshift NM_001407386.1:c.177_178delCC NP_001394315.1:p.Gln60Argfs frameshift NM_001407388.1:c.177_178delCC NP_001394317.1:p.Gln60Argfs frameshift NM_001407390.1:c.177_178delCC NP_001394319.1:p.Gln60Argfs frameshift NM_001407392.1:c.177_178delCC NP_001394321.1:p.Gln60Argfs frameshift NM_001407394.1:c.177_178delCC NP_001394323.1:p.Gln60Argfs frameshift NM_001407395.1:c.177_178delCC NP_001394324.1:p.Gln60Argfs frameshift NM_001407396.1:c.177_178delCC NP_001394325.1:p.Gln60Argfs frameshift NM_001407397.1:c.177_178delCC NP_001394326.1:p.Gln60Argfs frameshift NM_001407398.1:c.177_178delCC NP_001394327.1:p.Gln60Argfs frameshift NM_001407399.1:c.177_178delCC NP_001394328.1:p.Gln60Argfs frameshift NM_001407400.1:c.177_178delCC NP_001394329.1:p.Gln60Argfs frameshift NM_001407401.1:c.177_178delCC NP_001394330.1:p.Gln60Argfs frameshift NC_000003.12:g.15635616_15635617del NC_000003.11:g.15677123_15677124del NG_008019.3:g.39266_39267del - Protein change
- Q60fs
- Other names
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- Canonical SPDI
- NC_000003.12:15635615:CC:
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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 28, 2022 | RCV002306715.2 |
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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Likely pathogenic
(Jan 28, 2022)
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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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Myriad Genetics, Inc.
Accession: SCV002602745.2
First in ClinVar: Nov 19, 2022 Last updated: Dec 24, 2022 |
Comment:
NM_000060.2(BTD):c.237_238delCC(Q80Rfs*11) is expected to be pathogenic in the context of biotinidase deficiency. This variant is predicted to lead to an abnormal or absent protein product … (more)
NM_000060.2(BTD):c.237_238delCC(Q80Rfs*11) is expected to be pathogenic in the context of biotinidase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in BTD, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. (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.