Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000546.6(TP53):c.511G>T (p.Glu171Ter)

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
Nucleotide Protein Molecular
consequence
NM_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
... more HGVS
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
Publications:
PubMed (1)
PubMed: 20522432
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)
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...

Help
These 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