BTD: BP4, BP7
ClinVar Genomic variation as it relates to human health
NM_001370658.1(BTD):c.201C>T (p.Asn67=)
Germline
Classification
Help
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.
(6)
Help
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.
Conflicting classifications of pathogenicity
Uncertain significance(1); Benign(1); Likely benign(3)
Uncertain significance(1); Benign(1); Likely benign(3)
6
criteria provided, conflicting classifications
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_001370658.1(BTD):c.201C>T (p.Asn67=)
Variation ID: 290069 Accession: VCV000290069.33
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p25.1 3: 15635640 (GRCh38) [ NCBI UCSC ] 3: 15677147 (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 6, 2016 Oct 20, 2024 Jul 1, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001370658.1:c.201C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357587.1:p.Asn67= synonymous NM_000060.4:c.261C>T NP_000051.1:p.Asn87= synonymous NM_001281723.4:c.201C>T NP_001268652.2:p.Asn67= synonymous NM_001281724.3:c.201C>T NP_001268653.2:p.Asn67= synonymous NM_001281725.3:c.201C>T NP_001268654.1:p.Asn67= synonymous NM_001281726.3:c.201C>T NP_001268655.2:p.Asn67= synonymous NM_001323582.2:c.201C>T NP_001310511.1:p.Asn67= synonymous NM_001370752.1:c.201C>T NP_001357681.1:p.Asn67= synonymous NM_001370753.1:c.201C>T NP_001357682.1:p.Asn67= synonymous NM_001407364.1:c.201C>T NP_001394293.1:p.Asn67= synonymous NM_001407365.1:c.201C>T NP_001394294.1:p.Asn67= synonymous NM_001407366.1:c.201C>T NP_001394295.1:p.Asn67= synonymous NM_001407367.1:c.201C>T NP_001394296.1:p.Asn67= synonymous NM_001407368.1:c.201C>T NP_001394297.1:p.Asn67= synonymous NM_001407369.1:c.201C>T NP_001394298.1:p.Asn67= synonymous NM_001407370.1:c.201C>T NP_001394299.1:p.Asn67= synonymous NM_001407371.1:c.201C>T NP_001394300.1:p.Asn67= synonymous NM_001407372.1:c.201C>T NP_001394301.1:p.Asn67= synonymous NM_001407373.1:c.201C>T NP_001394302.1:p.Asn67= synonymous NM_001407374.1:c.201C>T NP_001394303.1:p.Asn67= synonymous NM_001407375.1:c.201C>T NP_001394304.1:p.Asn67= synonymous NM_001407376.1:c.201C>T NP_001394305.1:p.Asn67= synonymous NM_001407377.1:c.201C>T NP_001394306.1:p.Asn67= synonymous NM_001407378.1:c.201C>T NP_001394307.1:p.Asn67= synonymous NM_001407379.1:c.201C>T NP_001394308.1:p.Asn67= synonymous NM_001407380.1:c.201C>T NP_001394309.1:p.Asn67= synonymous NM_001407381.1:c.201C>T NP_001394310.1:p.Asn67= synonymous NM_001407382.1:c.201C>T NP_001394311.1:p.Asn67= synonymous NM_001407383.1:c.201C>T NP_001394312.1:p.Asn67= synonymous NM_001407384.1:c.201C>T NP_001394313.1:p.Asn67= synonymous NM_001407386.1:c.201C>T NP_001394315.1:p.Asn67= synonymous NM_001407388.1:c.201C>T NP_001394317.1:p.Asn67= synonymous NM_001407390.1:c.201C>T NP_001394319.1:p.Asn67= synonymous NM_001407392.1:c.201C>T NP_001394321.1:p.Asn67= synonymous NM_001407394.1:c.201C>T NP_001394323.1:p.Asn67= synonymous NM_001407395.1:c.201C>T NP_001394324.1:p.Asn67= synonymous NM_001407396.1:c.201C>T NP_001394325.1:p.Asn67= synonymous NM_001407397.1:c.201C>T NP_001394326.1:p.Asn67= synonymous NM_001407398.1:c.201C>T NP_001394327.1:p.Asn67= synonymous NM_001407399.1:c.201C>T NP_001394328.1:p.Asn67= synonymous NM_001407400.1:c.201C>T NP_001394329.1:p.Asn67= synonymous NM_001407401.1:c.201C>T NP_001394330.1:p.Asn67= synonymous NC_000003.12:g.15635640C>T NC_000003.11:g.15677147C>T NG_008019.2:g.39289C>T NG_008019.3:g.39290C>T - Protein change
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- Other names
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- Canonical SPDI
- NC_000003.12:15635639:C:T
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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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0.00040 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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1000 Genomes Project 30x 0.00031
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD) 0.00156
The Genome Aggregation Database (gnomAD), exomes 0.00162
Exome Aggregation Consortium (ExAC) 0.00172
Trans-Omics for Precision Medicine (TOPMed) 0.00174
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00185
- 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 | ||
|---|---|---|---|---|---|---|
| HI score
Help
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
Help
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. |
|||
| BTD | - | - |
GRCh38 GRCh37 |
667 | 753 | |
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
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
|
Jul 1, 2024 | RCV000726430.30 | |
| Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Jan 31, 2024 | RCV000633685.19 |
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
Help
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
Help
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
(Sep 08, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000344561.4
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 1
Sex: mixed
|
|
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Likely benign
(May 18, 2021)
|
criteria provided, single submitter
Method: clinical testing
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Biotinidase deficiency
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV001653433.1
First in ClinVar: Jun 03, 2021 Last updated: Jun 03, 2021 |
Sex: mixed
|
|
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Likely benign
(Jun 09, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600940.3
First in ClinVar: Dec 06, 2016 Last updated: Dec 31, 2022 |
|
|
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Benign
(Jan 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
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Biotinidase deficiency
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000754952.4
First in ClinVar: May 28, 2018 Last updated: Feb 20, 2024 |
|
|
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Likely benign
(Jul 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV002496790.18
First in ClinVar: Apr 08, 2022 Last updated: Oct 20, 2024 |
Comment:
BTD: BP4, BP7
Number of individuals with the variant: 13
|
|
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Likely benign
(Sep 16, 2020)
|
no assertion criteria provided
Method: clinical testing
|
Biotinidase deficiency
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001460178.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
|
Comment:
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. |
Comment:
BTD: BP4, BP7
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. | Wiltink RC | European journal of human genetics : EJHG | 2016 | PMID: 27329734 |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BTD | - | - | - | - |
Text-mined citations for rs147057169 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Oct 27, 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.