The c.65C>T (p.S22F) alteration is located in exon 2 (coding exon 2) of the BTD gene. This alteration results from a C to T substitution at nucleotide position 65, causing the serine (S) at amino acid position 22 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001370658.1(BTD):c.5C>T (p.Ser2Phe)
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.
(1)
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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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001370658.1(BTD):c.5C>T (p.Ser2Phe)
Variation ID: 2609987 Accession: VCV002609987.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p25.1 3: 15635444 (GRCh38) [ NCBI UCSC ] 3: 15676951 (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 Oct 28, 2023 May 1, 2024 Jul 5, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001370658.1:c.5C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357587.1:p.Ser2Phe missense NM_000060.2:c.65C>T NM_001281723.4:c.5C>T NP_001268652.2:p.Ser2Phe missense NM_001281724.3:c.5C>T NP_001268653.2:p.Ser2Phe missense NM_001281725.3:c.5C>T NP_001268654.1:p.Ser2Phe missense NM_001281726.3:c.5C>T NP_001268655.2:p.Ser2Phe missense NM_001323582.2:c.5C>T NP_001310511.1:p.Ser2Phe missense NM_001370752.1:c.5C>T NP_001357681.1:p.Ser2Phe missense NM_001370753.1:c.5C>T NP_001357682.1:p.Ser2Phe missense NM_001407364.1:c.5C>T NP_001394293.1:p.Ser2Phe missense NM_001407365.1:c.5C>T NP_001394294.1:p.Ser2Phe missense NM_001407366.1:c.5C>T NP_001394295.1:p.Ser2Phe missense NM_001407367.1:c.5C>T NP_001394296.1:p.Ser2Phe missense NM_001407368.1:c.5C>T NP_001394297.1:p.Ser2Phe missense NM_001407369.1:c.5C>T NP_001394298.1:p.Ser2Phe missense NM_001407370.1:c.5C>T NP_001394299.1:p.Ser2Phe missense NM_001407371.1:c.5C>T NP_001394300.1:p.Ser2Phe missense NM_001407372.1:c.5C>T NP_001394301.1:p.Ser2Phe missense NM_001407373.1:c.5C>T NP_001394302.1:p.Ser2Phe missense NM_001407374.1:c.5C>T NP_001394303.1:p.Ser2Phe missense NM_001407375.1:c.5C>T NP_001394304.1:p.Ser2Phe missense NM_001407376.1:c.5C>T NP_001394305.1:p.Ser2Phe missense NM_001407377.1:c.5C>T NP_001394306.1:p.Ser2Phe missense NM_001407378.1:c.5C>T NP_001394307.1:p.Ser2Phe missense NM_001407379.1:c.5C>T NP_001394308.1:p.Ser2Phe missense NM_001407380.1:c.5C>T NP_001394309.1:p.Ser2Phe missense NM_001407381.1:c.5C>T NP_001394310.1:p.Ser2Phe missense NM_001407382.1:c.5C>T NP_001394311.1:p.Ser2Phe missense NM_001407383.1:c.5C>T NP_001394312.1:p.Ser2Phe missense NM_001407384.1:c.5C>T NP_001394313.1:p.Ser2Phe missense NM_001407386.1:c.5C>T NP_001394315.1:p.Ser2Phe missense NM_001407388.1:c.5C>T NP_001394317.1:p.Ser2Phe missense NM_001407390.1:c.5C>T NP_001394319.1:p.Ser2Phe missense NM_001407392.1:c.5C>T NP_001394321.1:p.Ser2Phe missense NM_001407394.1:c.5C>T NP_001394323.1:p.Ser2Phe missense NM_001407395.1:c.5C>T NP_001394324.1:p.Ser2Phe missense NM_001407396.1:c.5C>T NP_001394325.1:p.Ser2Phe missense NM_001407397.1:c.5C>T NP_001394326.1:p.Ser2Phe missense NM_001407398.1:c.5C>T NP_001394327.1:p.Ser2Phe missense NM_001407399.1:c.5C>T NP_001394328.1:p.Ser2Phe missense NM_001407400.1:c.5C>T NP_001394329.1:p.Ser2Phe missense NM_001407401.1:c.5C>T NP_001394330.1:p.Ser2Phe missense NC_000003.12:g.15635444C>T NC_000003.11:g.15676951C>T NG_008019.3:g.39094C>T - Protein change
- S2F
- Other names
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- Canonical SPDI
- NC_000003.12:15635443: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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Allele frequency
Help
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 | ||
|---|---|---|---|---|---|---|
| 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. |
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| 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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Jul 5, 2023 | RCV003360125.2 |
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
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
(Jul 05, 2023)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004078881.2
First in ClinVar: Oct 28, 2023 Last updated: May 01, 2024 |
Comment:
The c.65C>T (p.S22F) alteration is located in exon 2 (coding exon 2) of the BTD gene. This alteration results from a C to T substitution … (more)
The c.65C>T (p.S22F) alteration is located in exon 2 (coding exon 2) of the BTD gene. This alteration results from a C to T substitution at nucleotide position 65, causing the serine (S) at amino acid position 22 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
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:
The c.65C>T (p.S22F) alteration is located in exon 2 (coding exon 2) of the BTD gene. This alteration results from a C to T substitution at nucleotide position 65, causing the serine (S) at amino acid position 22 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
Help| There 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 Sep 01, 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.