This sequence change creates a premature translational stop signal (p.Glu171*) in the TP53 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). 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 17, 2019
- Most recent Submission:
- May 16, 2022
- Last evaluated:
- Dec 16, 2018
- Accession:
- VCV000634771.4
- Variation ID:
- 634771
- Description:
- single nucleotide variant
Help
NM_000546.6(TP53):c.511G>T (p.Glu171Ter)
- Allele ID
- 622617
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17p13.1
- Genomic location
- 17: 7675101 (GRCh38) GRCh38 UCSC
- 17: 7578419 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000546.6:c.511G>T MANE Select NP_000537.3:p.Glu171Ter nonsense NM_001126112.3:c.511G>T NP_001119584.1:p.Glu171Ter nonsense NM_001126113.3:c.511G>T NP_001119585.1:p.Glu171Ter nonsense NM_001126114.3:c.511G>T NP_001119586.1:p.Glu171Ter nonsense NM_001126115.2:c.115G>T NP_001119587.1:p.Glu39Ter nonsense NM_001126116.2:c.115G>T NP_001119588.1:p.Glu39Ter nonsense NM_001126117.2:c.115G>T NP_001119589.1:p.Glu39Ter nonsense NM_001126118.2:c.394G>T NP_001119590.1:p.Glu132Ter nonsense NM_001276695.3:c.394G>T NP_001263624.1:p.Glu132Ter nonsense NM_001276696.3:c.394G>T NP_001263625.1:p.Glu132Ter nonsense NM_001276697.3:c.34G>T NP_001263626.1:p.Glu12Ter nonsense NM_001276698.3:c.34G>T NP_001263627.1:p.Glu12Ter nonsense NM_001276699.3:c.34G>T NP_001263628.1:p.Glu12Ter nonsense NM_001276760.3:c.394G>T NP_001263689.1:p.Glu132Ter nonsense NM_001276761.3:c.394G>T NP_001263690.1:p.Glu132Ter nonsense NC_000017.11:g.7675101C>A NC_000017.10:g.7578419C>A NG_017013.2:g.17450G>T LRG_321:g.17450G>T LRG_321t1:c.511G>T LRG_321p1:p.Glu171Ter - Protein change
- E132*, E171*, E39*, E12*
- Other names
- -
- Canonical SPDI
- NC_000017.11:7675100:C:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- dbSNP: rs587781845
- VarSome
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | criteria provided, single submitter | Dec 16, 2018 | RCV000792928.2 | |
| Pathogenic | 1 | no assertion criteria provided | Dec 1, 2018 | RCV000785509.2 |
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 |
2672 | 2755 | |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Dec 16, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Li-Fraumeni syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000932257.2
First in ClinVar: Aug 14, 2019 Last updated: May 16, 2022 |
Comment:
This sequence change creates a premature translational stop signal (p.Glu171*) in the TP53 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Glu171*) in the TP53 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
|
Pathogenic
(Dec 01, 2018)
|
no assertion criteria provided
Method: research
|
Neoplasm of ovary
Affected status: yes
Allele origin:
somatic
|
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
Accession: SCV000924081.1
First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019 |
|
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 |
|---|---|---|---|---|
| TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. | Ruijs MW | Journal of medical genetics | 2010 | PMID: 20522432 |
Text-mined citations for rs587781845...
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 Nov 05, 2022