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NM_000546.6(TP53):c.892G>T (p.Glu298Ter) AND Rhabdomyosarcoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001257516.1

Allele description [Variation Report for NM_000546.6(TP53):c.892G>T (p.Glu298Ter)]

NM_000546.6(TP53):c.892G>T (p.Glu298Ter)

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.892G>T (p.Glu298Ter)
HGVS:
  • NC_000017.11:g.7673728C>A
  • NG_017013.2:g.18823G>T
  • NM_000546.6:c.892G>TMANE SELECT
  • NM_001126112.3:c.892G>T
  • NM_001126113.3:c.892G>T
  • NM_001126114.3:c.892G>T
  • NM_001126115.2:c.496G>T
  • NM_001126116.2:c.496G>T
  • NM_001126117.2:c.496G>T
  • NM_001126118.2:c.775G>T
  • NM_001276695.3:c.775G>T
  • NM_001276696.3:c.775G>T
  • NM_001276697.3:c.415G>T
  • NM_001276698.3:c.415G>T
  • NM_001276699.3:c.415G>T
  • NM_001276760.3:c.775G>T
  • NM_001276761.3:c.775G>T
  • NP_000537.3:p.Glu298Ter
  • NP_000537.3:p.Glu298Ter
  • NP_001119584.1:p.Glu298Ter
  • NP_001119585.1:p.Glu298Ter
  • NP_001119586.1:p.Glu298Ter
  • NP_001119587.1:p.Glu166Ter
  • NP_001119588.1:p.Glu166Ter
  • NP_001119589.1:p.Glu166Ter
  • NP_001119590.1:p.Glu259Ter
  • NP_001263624.1:p.Glu259Ter
  • NP_001263625.1:p.Glu259Ter
  • NP_001263626.1:p.Glu139Ter
  • NP_001263627.1:p.Glu139Ter
  • NP_001263628.1:p.Glu139Ter
  • NP_001263689.1:p.Glu259Ter
  • NP_001263690.1:p.Glu259Ter
  • LRG_321t1:c.892G>T
  • LRG_321:g.18823G>T
  • LRG_321p1:p.Glu298Ter
  • NC_000017.10:g.7577046C>A
  • NC_000017.10:g.7577046C>A
  • NM_000546.4:c.892G>T
  • NM_000546.5(TP53):c.892G>T
  • NM_000546.5:c.892G>T
  • NP_000537.3:p.Glu298*
  • p.Glu298Ter
Protein change:
E139*
Links:
dbSNP: rs201744589
NCBI 1000 Genomes Browser:
rs201744589
Molecular consequence:
  • NM_000546.6:c.892G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126112.3:c.892G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126113.3:c.892G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126114.3:c.892G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126115.2:c.496G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126116.2:c.496G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126117.2:c.496G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126118.2:c.775G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276695.3:c.775G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276696.3:c.775G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276697.3:c.415G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276698.3:c.415G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276699.3:c.415G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276760.3:c.775G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276761.3:c.775G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Rhabdomyosarcoma
Synonyms:
Rhabdomyosarcoma (disease)
Identifiers:
MONDO: MONDO:0005212; MeSH: D012208; MedGen: C0035412; Human Phenotype Ontology: HP:0002859

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001434342Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
no assertion criteria provided
Pathogenic
(Sep 1, 2020) 		germlineprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV001434342.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024