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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 4, 2016
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:
RCV000722016.5

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:
Astrocytoma, anaplastic
Synonyms:
Malignant astrocytoma; High-grade astrocytoma
Identifiers:
MONDO: MONDO:0016684; MedGen: C0334579
Name:
Pleomorphic xanthoastrocytoma (PXA)
Identifiers:
MONDO: MONDO:0016690; MedGen: C0334586; Human Phenotype Ontology: HP:0033682

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000853189St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 4, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

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

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 St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV000853189.1

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

Description

This is a missense alteration in which a C is replaced by a T at coding nucleotide 844 and is predicted to change an Arginine to a Tryptophan at amino acid codon 282. Classification criteria: PS3, PM1, PM2, PP3, PP5.

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

Last Updated: Sep 29, 2024