This variant, c.448_459del, results in the deletion of 4 amino acid(s) of the TP53 protein (p.Thr150_Pro153del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 133282). This variant disrupts a region of the TP53 protein in which other variant(s) (p.Pro152Arg) have been determined to be pathogenic (PMID: 12826609, 29979965, 30224644; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
ClinVar Genomic variation as it relates to human health
Help
- Interpretation:
-
Pathogenic
- Review status:
- criteria provided, single submitter
- Submissions:
- 2
- First in ClinVar:
- Jun 9, 2014
- Most recent Submission:
- Feb 7, 2023
- Last evaluated:
- Sep 21, 2022
- Accession:
- VCV000133282.3
- Variation ID:
- 133282
- Description:
- 12bp deletion
Help
NM_000546.6(TP53):c.448_459del (p.Thr150_Pro153del)
- Allele ID
- 137021
- Variant type
- Deletion
- Variant length
- 12 bp
- Cytogenetic location
- 17p13.1
- Genomic location
- 17: 7675153-7675164 (GRCh38) GRCh38 UCSC
- 17: 7578471-7578482 (GRCh37) GRCh37 UCSC
- HGVS
- ... more HGVS ... less HGVS
- Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000017.11:7675152:GGGCGGGGGTGTGG:GG
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA000194
- dbSNP: rs137852790
- VarSome
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| not provided | 1 | no assertion provided | - | RCV000119795.1 | |
| Pathogenic | 1 | criteria provided, single submitter | Sep 21, 2022 | RCV002514608.1 |
Help
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation viewer | Related variants | ||
|---|---|---|---|---|---|---|
| HI score Help | TS score Help | Within gene | All | |||
| TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2881 | 2977 | |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Sep 21, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV003236108.1
First in ClinVar: Feb 07, 2023 Last updated: Feb 07, 2023 |
Comment:
This variant, c.448_459del, results in the deletion of 4 amino acid(s) of the TP53 protein (p.Thr150_Pro153del), but otherwise preserves the integrity of the reading frame. … (more)
This variant, c.448_459del, results in the deletion of 4 amino acid(s) of the TP53 protein (p.Thr150_Pro153del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 133282). This variant disrupts a region of the TP53 protein in which other variant(s) (p.Pro152Arg) have been determined to be pathogenic (PMID: 12826609, 29979965, 30224644; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
|
|
|
not provided
(-)
|
no assertion provided
Method: not provided
|
Affected status: not provided
Allele origin:
somatic
|
Laboratory of Translational Genomics, National Cancer Institute
Accession: SCV000154267.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Pediatric sarcoma specimen
|
|
Functional evidence
Help| 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 this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Mutational processes shape the landscape of TP53 mutations in human cancer. | Giacomelli AO | Nature genetics | 2018 | PMID: 30224644 |
| A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation. | Kotler E | Molecular cell | 2018 | PMID: 29979965 |
| Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. | Kato S | Proceedings of the National Academy of Sciences of the United States of America | 2003 | PMID: 12826609 |
Text-mined citations for rs137852790...
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 Jul 29, 2023