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NM_000546.6(TP53):c.892G>T (p.Glu298Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 22, 2022
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:
RCV000216964.3

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:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000278127Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Feb 22, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk.

Hwang SJ, Lozano G, Amos CI, Strong LC.

Am J Hum Genet. 2003 Apr;72(4):975-83. Epub 2003 Feb 27.

PubMed [citation]
PMID:
12610779
PMCID:
PMC1180359

Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome.

Wu CC, Krahe R, Lozano G, Zhang B, Wilson CD, Jo EJ, Amos CI, Shete S, Strong LC.

Hum Genet. 2011 Jun;129(6):663-73. doi: 10.1007/s00439-011-0957-1. Epub 2011 Feb 9.

PubMed [citation]
PMID:
21305319
PMCID:
PMC4194062

Details of each submission

From Ambry Genetics, SCV000278127.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.E298* pathogenic mutation (also known as c.892G>T), located in coding exon 7 of the TP53 gene, results from a G to T substitution at nucleotide position 892. This changes the amino acid from a glutamic acid to a stop codon within coding exon 7. This alteration was detected in a large Li-Fraumeni kindred consisting of 33 carriers of the alteration and a total of 32 tumors (Wu CC et al. Hum. Genet. 2011 Jun; 129(6):663-73). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024