The TPM1 c.720G>C variant is predicted to result in the amino acid substitution p.Glu240Asp. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ClinVar Genomic variation as it relates to human health
NM_001018005.2(TPM1):c.720G>C (p.Glu240Asp)
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
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_001018005.2(TPM1):c.720G>C (p.Glu240Asp)
Variation ID: 3061182 Accession: VCV003061182.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 15q22.2 15: 63062593 (GRCh38) [ NCBI UCSC ] 15: 63354792 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Mar 17, 2024 Oct 8, 2024 Feb 12, 2024 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001018005.2:c.720G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001018005.1:p.Glu240Asp missense NM_000366.6:c.720G>C NP_000357.3:p.Glu240Asp missense NM_001018004.2:c.720G>C NP_001018004.1:p.Glu240Asp missense NM_001018006.2:c.720G>C NP_001018006.1:p.Glu240Asp missense NM_001018007.2:c.720G>C NP_001018007.1:p.Glu240Asp missense NM_001018008.2:c.612G>C NP_001018008.1:p.Glu204Asp missense NM_001018020.2:c.720G>C NP_001018020.1:p.Glu240Asp missense NM_001301244.2:c.720G>C NP_001288173.1:p.Glu240Asp missense NM_001301289.2:c.612G>C NP_001288218.1:p.Glu204Asp missense NM_001330344.2:c.612G>C NP_001317273.1:p.Glu204Asp missense NM_001330346.2:c.612G>C NP_001317275.1:p.Glu204Asp missense NM_001330351.2:c.612G>C NP_001317280.1:p.Glu204Asp missense NM_001365776.1:c.720G>C NP_001352705.1:p.Glu240Asp missense NM_001365777.1:c.720G>C NP_001352706.1:p.Glu240Asp missense NM_001365778.1:c.846G>C NP_001352707.1:p.Glu282Asp missense NM_001365779.1:c.720G>C NP_001352708.1:p.Glu240Asp missense NM_001365780.1:c.612G>C NP_001352709.1:p.Glu204Asp missense NM_001365781.2:c.612G>C NP_001352710.1:p.Glu204Asp missense NM_001365782.1:c.612G>C NP_001352711.1:p.Glu204Asp missense NM_001407322.1:c.846G>C NP_001394251.1:p.Glu282Asp missense NM_001407323.1:c.846G>C NP_001394252.1:p.Glu282Asp missense NM_001407324.1:c.846G>C NP_001394253.1:p.Glu282Asp missense NM_001407325.1:c.720G>C NP_001394254.1:p.Glu240Asp missense NM_001407326.1:c.720G>C NP_001394255.1:p.Glu240Asp missense NM_001407327.1:c.720G>C NP_001394256.1:p.Glu240Asp missense NM_001407328.1:c.720G>C NP_001394257.1:p.Glu240Asp missense NM_001407329.1:c.720G>C NP_001394258.1:p.Glu240Asp missense NM_001407330.1:c.720G>C NP_001394259.1:p.Glu240Asp missense NM_001407331.1:c.720G>C NP_001394260.1:p.Glu240Asp missense NM_001407332.1:c.720G>C NP_001394261.1:p.Glu240Asp missense NM_001407333.1:c.720G>C NP_001394262.1:p.Glu240Asp missense NM_001407334.1:c.720G>C NP_001394263.1:p.Glu240Asp missense NM_001407335.1:c.720G>C NP_001394264.1:p.Glu240Asp missense NM_001407336.1:c.720G>C NP_001394265.1:p.Glu240Asp missense NM_001407337.1:c.720G>C NP_001394266.1:p.Glu240Asp missense NM_001407338.1:c.720G>C NP_001394267.1:p.Glu240Asp missense NM_001407340.1:c.612G>C NP_001394269.1:p.Glu204Asp missense NM_001407341.1:c.612G>C NP_001394270.1:p.Glu204Asp missense NM_001407342.1:c.612G>C NP_001394271.1:p.Glu204Asp missense NM_001407344.1:c.612G>C NP_001394273.1:p.Glu204Asp missense NR_176337.1:n.879G>C non-coding transcript variant NR_176338.1:n.879G>C non-coding transcript variant NR_176339.1:n.974G>C non-coding transcript variant NR_176340.1:n.898G>C non-coding transcript variant NR_176341.1:n.879G>C non-coding transcript variant NR_176342.1:n.879G>C non-coding transcript variant NR_176343.1:n.879G>C non-coding transcript variant NR_176344.1:n.1005G>C non-coding transcript variant NR_176345.1:n.879G>C non-coding transcript variant NR_176346.1:n.879G>C non-coding transcript variant NR_176347.1:n.879G>C non-coding transcript variant NR_176348.1:n.715G>C non-coding transcript variant NR_176349.1:n.715G>C non-coding transcript variant NR_176350.1:n.775G>C non-coding transcript variant NR_176351.1:n.775G>C non-coding transcript variant NR_176352.1:n.775G>C non-coding transcript variant NR_176353.1:n.699G>C non-coding transcript variant NC_000015.10:g.63062593G>C NC_000015.9:g.63354792G>C NG_007557.1:g.24955G>C LRG_387:g.24955G>C LRG_387t1:c.720G>C LRG_387p1:p.Glu240Asp - Protein change
- E204D, E240D, E282D
- Other names
- -
- Canonical SPDI
- NC_000015.10:63062592:G:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- 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. |
|||
| TPM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
854 | 902 | |
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. |
|---|---|---|---|---|
|
TPM1-related disorder
|
Uncertain significance (1) |
no assertion criteria provided
|
Feb 12, 2024 | RCV003982694.2 |
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. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Feb 12, 2024)
|
no assertion criteria provided
Method: clinical testing
|
TPM1-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004796952.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
The TPM1 c.720G>C variant is predicted to result in the amino acid substitution p.Glu240Asp. To our knowledge, this variant has not been reported in the … (more)
The TPM1 c.720G>C variant is predicted to result in the amino acid substitution p.Glu240Asp. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (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 TPM1 c.720G>C variant is predicted to result in the amino acid substitution p.Glu240Asp. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
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 Oct 13, 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.