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NM_000546.6(TP53):c.880G>T (p.Glu294Ter) AND Li-Fraumeni syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 21, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004022313.1

Allele description [Variation Report for NM_000546.6(TP53):c.880G>T (p.Glu294Ter)]

NM_000546.6(TP53):c.880G>T (p.Glu294Ter)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.880G>T (p.Glu294Ter)
HGVS:
  • NC_000017.11:g.7673740C>A
  • NG_017013.2:g.18811G>T
  • NM_000546.6:c.880G>TMANE SELECT
  • NM_001126112.3:c.880G>T
  • NM_001126113.3:c.880G>T
  • NM_001126114.3:c.880G>T
  • NM_001126115.2:c.484G>T
  • NM_001126116.2:c.484G>T
  • NM_001126117.2:c.484G>T
  • NM_001126118.2:c.763G>T
  • NM_001276695.3:c.763G>T
  • NM_001276696.3:c.763G>T
  • NM_001276697.3:c.403G>T
  • NM_001276698.3:c.403G>T
  • NM_001276699.3:c.403G>T
  • NM_001276760.3:c.763G>T
  • NM_001276761.3:c.763G>T
  • NP_000537.3:p.Glu294Ter
  • NP_001119584.1:p.Glu294Ter
  • NP_001119585.1:p.Glu294Ter
  • NP_001119586.1:p.Glu294Ter
  • NP_001119587.1:p.Glu162Ter
  • NP_001119588.1:p.Glu162Ter
  • NP_001119589.1:p.Glu162Ter
  • NP_001119590.1:p.Glu255Ter
  • NP_001263624.1:p.Glu255Ter
  • NP_001263625.1:p.Glu255Ter
  • NP_001263626.1:p.Glu135Ter
  • NP_001263627.1:p.Glu135Ter
  • NP_001263628.1:p.Glu135Ter
  • NP_001263689.1:p.Glu255Ter
  • NP_001263690.1:p.Glu255Ter
  • LRG_321:g.18811G>T
  • NC_000017.10:g.7577058C>A
  • NM_000546.4:c.880G>T
Protein change:
E135*
Links:
dbSNP: rs1057520607
NCBI 1000 Genomes Browser:
rs1057520607
Molecular consequence:
  • NM_000546.6:c.880G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126112.3:c.880G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126113.3:c.880G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126114.3:c.880G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126115.2:c.484G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126116.2:c.484G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126117.2:c.484G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126118.2:c.763G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276695.3:c.763G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276696.3:c.763G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276697.3:c.403G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276698.3:c.403G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276699.3:c.403G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276760.3:c.763G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276761.3:c.763G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Li-Fraumeni syndrome 1 (LFS)
Identifiers:
Gene: 553989; MedGen: C1835398; Orphanet: 524; OMIM: 151623

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004930394Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Feb 21, 2024) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004930394.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024