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

Germline classification:
Pathogenic (1 submission)
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:
RCV001270278.4

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:
Colorectal cancer
Synonyms:
Colorectal cancer, somatic; Malignant Colorectal Neoplasm
Identifiers:
MONDO: MONDO:0005575; MedGen: C0346629; OMIM: 114500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001450497Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicsomaticcase-control

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedcase-control

Citations

PubMed

Pattern of nucleotide variants of TP53 and their correlation with the expression of p53 and its downstream proteins in a Sri Lankan cohort of breast and colorectal cancer patients.

Manoharan V, Karunanayake EH, Tennekoon KH, De Silva S, Imthikab AIA, De Silva K, Angunawela P, Vishwakula S, Lunec J.

BMC Cancer. 2020 Jan 30;20(1):72. doi: 10.1186/s12885-020-6573-5.

PubMed [citation]
PMID:
32000721
PMCID:
PMC6990524

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
See all PubMed Citations (3)

Details of each submission

From Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo, SCV001450497.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-control PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024