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NM_000546.6(TP53):c.844C>T (p.Arg282Trp) AND Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 12, 2019
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:
RCV003315223.3

Allele description [Variation Report for NM_000546.6(TP53):c.844C>T (p.Arg282Trp)]

NM_000546.6(TP53):c.844C>T (p.Arg282Trp)

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.844C>T (p.Arg282Trp)
HGVS:
  • NC_000017.11:g.7673776G>A
  • NG_017013.2:g.18775C>T
  • NM_000546.6:c.844C>TMANE SELECT
  • NM_001126112.3:c.844C>T
  • NM_001126113.3:c.844C>T
  • NM_001126114.3:c.844C>T
  • NM_001126115.2:c.448C>T
  • NM_001126116.2:c.448C>T
  • NM_001126117.2:c.448C>T
  • NM_001126118.2:c.727C>T
  • NM_001276695.3:c.727C>T
  • NM_001276696.3:c.727C>T
  • NM_001276697.3:c.367C>T
  • NM_001276698.3:c.367C>T
  • NM_001276699.3:c.367C>T
  • NM_001276760.3:c.727C>T
  • NM_001276761.3:c.727C>T
  • NP_000537.3:p.Arg282Trp
  • NP_000537.3:p.Arg282Trp
  • NP_001119584.1:p.Arg282Trp
  • NP_001119585.1:p.Arg282Trp
  • NP_001119586.1:p.Arg282Trp
  • NP_001119587.1:p.Arg150Trp
  • NP_001119588.1:p.Arg150Trp
  • NP_001119589.1:p.Arg150Trp
  • NP_001119590.1:p.Arg243Trp
  • NP_001263624.1:p.Arg243Trp
  • NP_001263625.1:p.Arg243Trp
  • NP_001263626.1:p.Arg123Trp
  • NP_001263627.1:p.Arg123Trp
  • NP_001263628.1:p.Arg123Trp
  • NP_001263689.1:p.Arg243Trp
  • NP_001263690.1:p.Arg243Trp
  • LRG_321t1:c.844C>T
  • LRG_321:g.18775C>T
  • LRG_321p1:p.Arg282Trp
  • NC_000017.10:g.7577094G>A
  • NM_000546.4:c.844C>T
  • NM_000546.5:c.844C>T
  • NM_000546.5:c.[844C>T]
  • P04637:p.Arg282Trp
Protein change:
R123W; ARG282TRP
Links:
UniProtKB: P04637#VAR_006016; OMIM: 191170.0018; dbSNP: rs28934574
NCBI 1000 Genomes Browser:
rs28934574
Molecular consequence:
  • NM_000546.6:c.844C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.844C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.844C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.844C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.727C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.727C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.727C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.727C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.727C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Identifiers:
MONDO: MONDO:0858939; MedGen: C5669918

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004012928Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 12, 2019) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital, SCV004012928.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 12, 2024