ClinVar Genomic variation as it relates to human health
NM_001018005.2(TPM1):c.849del (p.Ile284fs)
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_001018005.2(TPM1):c.849del (p.Ile284fs)
Variation ID: 3074587 Accession: VCV003074587.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 15q22.2 15: 63064139 (GRCh38) [ NCBI UCSC ] 15: 63356338 (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 Apr 20, 2024 Apr 20, 2024 Nov 20, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001018005.2:c.849del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001018005.1:p.Ile284fs frameshift NM_000366.6:c.849del NP_000357.3:p.Met284fs frameshift NM_001018004.2:c.772+1495del intron variant NM_001018006.2:c.772+1495del intron variant NM_001018007.2:c.772+1495del intron variant NM_001018008.2:c.664+1495del intron variant NM_001018020.2:c.772+1495del intron variant NM_001301244.2:c.849del NP_001288173.1:p.Ile284fs frameshift NM_001301289.2:c.664+1495del intron variant NM_001330344.2:c.664+1495del intron variant NM_001330346.2:c.741del NP_001317275.1:p.Ile248fs frameshift NM_001330351.2:c.664+1495del intron variant NM_001365776.1:c.772+1495del intron variant NM_001365777.1:c.772+1495del intron variant NM_001365778.1:c.898+1495del intron variant NM_001365779.1:c.849del NP_001352708.1:p.Met284fs frameshift NM_001365780.1:c.664+1495del intron variant NM_001365781.2:c.741del NP_001352710.1:p.Met248fs frameshift NM_001365782.1:c.741del NP_001352711.1:p.Met248fs frameshift NM_001407322.1:c.975del NP_001394251.1:p.Ile326fs frameshift NM_001407323.1:c.975del NP_001394252.1:p.Met326fs frameshift NM_001407324.1:c.975del NP_001394253.1:p.Met326fs frameshift NM_001407325.1:c.*1331del 3 prime UTR NM_001407326.1:c.849del NP_001394255.1:p.Ser283_Ile284insTer frameshift NM_001407327.1:c.772+1495del intron variant NM_001407328.1:c.772+1495del intron variant NM_001407329.1:c.849del NP_001394258.1:p.Ile284fs frameshift NM_001407330.1:c.849del NP_001394259.1:p.Met284fs frameshift NM_001407331.1:c.849del NP_001394260.1:p.Ile284fs frameshift NM_001407332.1:c.849del NP_001394261.1:p.Met284fs frameshift NM_001407333.1:c.849del NP_001394262.1:p.Met284fs frameshift NM_001407334.1:c.849del NP_001394263.1:p.Met284fs frameshift NM_001407335.1:c.849del NP_001394264.1:p.Met284fs frameshift NM_001407336.1:c.772+1495del intron variant NM_001407337.1:c.772+1495del intron variant NM_001407338.1:c.772+1495del intron variant NM_001407340.1:c.*1331del 3 prime UTR NM_001407341.1:c.*1331del 3 prime UTR NM_001407342.1:c.664+1495del intron variant NM_001407344.1:c.741del NP_001394273.1:p.Ile248fs frameshift NR_176339.1:n.1103del non-coding transcript variant NR_176341.1:n.1008del non-coding transcript variant NR_176342.1:n.1008del non-coding transcript variant NR_176343.1:n.1008del non-coding transcript variant NR_176345.1:n.1008del non-coding transcript variant NR_176346.1:n.1008del non-coding transcript variant NR_176351.1:n.2322del non-coding transcript variant NC_000015.10:g.63064140del NC_000015.9:g.63356339del NG_007557.1:g.26502del LRG_387:g.26502del LRG_387t1:c.849del LRG_387p1:p.Ile284fs - Protein change
- I248fs, I284fs, I326fs, M248fs, M284fs, M326fs
- Other names
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- Canonical SPDI
- NC_000015.10:63064138:CC:C
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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
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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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TPM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
840 | 889 |
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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Nov 20, 2023 | RCV004014121.1 |
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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Uncertain Significance
(Nov 20, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004838216.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This variant deletes 1 nucleotide in exon 9 of the TPM1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 1 nucleotide in exon 9 of the TPM1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with TPM1-related disorders in the literature. This variant has been identified in 1/250560 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Clinical relevance of loss-of-function TPM1 truncation variants in autosomal dominant cardiovascular disorders is not clearly established. The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
Number of individuals with the variant: 1
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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 May 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.