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. This variant has not been reported in the literature in individuals affected with TPM1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln24*) in the TPM1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TPM1 cause disease.
ClinVar Genomic variation as it relates to human health
NM_001018005.2(TPM1):c.70C>T (p.Gln24Ter)
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)
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.
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_001018005.2(TPM1):c.70C>T (p.Gln24Ter)
Variation ID: 1954809 Accession: VCV001954809.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 15q22.2 15: 63042899 (GRCh38) [ NCBI UCSC ] 15: 63335098 (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 7, 2023 Feb 28, 2024 Oct 13, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001018005.2:c.70C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001018005.1:p.Gln24Ter nonsense NM_000366.6:c.70C>T NP_000357.3:p.Gln24Ter nonsense NM_001018004.2:c.70C>T NP_001018004.1:p.Gln24Ter nonsense NM_001018006.2:c.70C>T NP_001018006.1:p.Gln24Ter nonsense NM_001018007.2:c.70C>T NP_001018007.1:p.Gln24Ter nonsense NM_001018020.2:c.70C>T NP_001018020.1:p.Gln24Ter nonsense NM_001301244.2:c.70C>T NP_001288173.1:p.Gln24Ter nonsense NM_001365776.1:c.70C>T NP_001352705.1:p.Gln24Ter nonsense NM_001365777.1:c.70C>T NP_001352706.1:p.Gln24Ter nonsense NM_001365778.1:c.70C>T NP_001352707.1:p.Gln24Ter nonsense NM_001365779.1:c.70C>T NP_001352708.1:p.Gln24Ter nonsense NM_001407322.1:c.70C>T NP_001394251.1:p.Gln24Ter nonsense NM_001407323.1:c.70C>T NP_001394252.1:p.Gln24Ter nonsense NM_001407324.1:c.70C>T NP_001394253.1:p.Gln24Ter nonsense NM_001407325.1:c.70C>T NP_001394254.1:p.Gln24Ter nonsense NM_001407326.1:c.70C>T NP_001394255.1:p.Gln24Ter nonsense NM_001407327.1:c.70C>T NP_001394256.1:p.Gln24Ter nonsense NM_001407328.1:c.70C>T NP_001394257.1:p.Gln24Ter nonsense NM_001407329.1:c.70C>T NP_001394258.1:p.Gln24Ter nonsense NM_001407330.1:c.70C>T NP_001394259.1:p.Gln24Ter nonsense NM_001407331.1:c.70C>T NP_001394260.1:p.Gln24Ter nonsense NM_001407332.1:c.70C>T NP_001394261.1:p.Gln24Ter nonsense NM_001407333.1:c.70C>T NP_001394262.1:p.Gln24Ter nonsense NM_001407334.1:c.70C>T NP_001394263.1:p.Gln24Ter nonsense NM_001407335.1:c.70C>T NP_001394264.1:p.Gln24Ter nonsense NM_001407336.1:c.70C>T NP_001394265.1:p.Gln24Ter nonsense NM_001407337.1:c.70C>T NP_001394266.1:p.Gln24Ter nonsense NM_001407338.1:c.70C>T NP_001394267.1:p.Gln24Ter nonsense NR_176337.1:n.153C>T NR_176338.1:n.153C>T NR_176339.1:n.153C>T NR_176340.1:n.153C>T NR_176341.1:n.153C>T NR_176342.1:n.153C>T NR_176343.1:n.153C>T NR_176344.1:n.153C>T NR_176345.1:n.153C>T NR_176346.1:n.153C>T NR_176347.1:n.153C>T NC_000015.10:g.63042899C>T NC_000015.9:g.63335098C>T NG_007557.1:g.5261C>T LRG_387:g.5261C>T LRG_387t1:c.70C>T LRG_387p1:p.Gln24Ter - Protein change
- Q24*
- Other names
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- Canonical SPDI
- NC_000015.10:63042898: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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| TPM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
853 | 901 | |
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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Oct 13, 2022 | RCV002690211.3 |
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
(Oct 13, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV002993950.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 28, 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. This variant has not been reported in the literature in individuals affected with TPM1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln24*) in the TPM1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TPM1 cause disease. (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:
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. This variant has not been reported in the literature in individuals affected with TPM1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln24*) in the TPM1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TPM1 cause disease.
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 29, 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.