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NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND Neoplasm of stomach

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 1, 2014
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:
RCV000148912.11

Allele description [Variation Report for NM_000546.6(TP53):c.847C>T (p.Arg283Cys)]

NM_000546.6(TP53):c.847C>T (p.Arg283Cys)

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.847C>T (p.Arg283Cys)
Other names:
p.R283C:CGC>TGC
HGVS:
  • NC_000017.11:g.7673773G>A
  • NG_017013.2:g.18778C>T
  • NM_000546.6:c.847C>TMANE SELECT
  • NM_001126112.3:c.847C>T
  • NM_001126113.3:c.847C>T
  • NM_001126114.3:c.847C>T
  • NM_001126115.2:c.451C>T
  • NM_001126116.2:c.451C>T
  • NM_001126117.2:c.451C>T
  • NM_001126118.2:c.730C>T
  • NM_001276695.3:c.730C>T
  • NM_001276696.3:c.730C>T
  • NM_001276697.3:c.370C>T
  • NM_001276698.3:c.370C>T
  • NM_001276699.3:c.370C>T
  • NM_001276760.3:c.730C>T
  • NM_001276761.3:c.730C>T
  • NP_000537.3:p.Arg283Cys
  • NP_000537.3:p.Arg283Cys
  • NP_001119584.1:p.Arg283Cys
  • NP_001119584.1:p.Arg283Cys
  • NP_001119585.1:p.Arg283Cys
  • NP_001119586.1:p.Arg283Cys
  • NP_001119586.1:p.Arg283Cys
  • NP_001119587.1:p.Arg151Cys
  • NP_001119588.1:p.Arg151Cys
  • NP_001119589.1:p.Arg151Cys
  • NP_001119590.1:p.Arg244Cys
  • NP_001263624.1:p.Arg244Cys
  • NP_001263625.1:p.Arg244Cys
  • NP_001263626.1:p.Arg124Cys
  • NP_001263627.1:p.Arg124Cys
  • NP_001263628.1:p.Arg124Cys
  • NP_001263689.1:p.Arg244Cys
  • NP_001263690.1:p.Arg244Cys
  • LRG_321t1:c.847C>T
  • LRG_321t2:c.847C>T
  • LRG_321t3:c.847C>T
  • LRG_321:g.18778C>T
  • LRG_321:p.Arg283Cys
  • LRG_321p1:p.Arg283Cys
  • LRG_321p3:p.Arg283Cys
  • NC_000017.10:g.7577091G>A
  • NM_000546.4:c.847C>T
  • NM_000546.5(TP53):c.847C>T
  • NM_000546.5:c.847C>T
  • NM_001126112.2:c.847C>T
  • NM_001126114.2:c.847C>T
  • P04637:p.Arg283Cys
  • p.R283C
Protein change:
R124C
Links:
UniProtKB: P04637#VAR_006017; dbSNP: rs149633775
NCBI 1000 Genomes Browser:
rs149633775
Molecular consequence:
  • NM_000546.6:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.730C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.730C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.730C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.370C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.370C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.370C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.730C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.730C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neoplasm of stomach
Synonyms:
Neoplasm of the stomach; Gastric neoplasm; Stomach Neoplasms
Identifiers:
MONDO: MONDO:0021085; MedGen: C0038356; Human Phenotype Ontology: HP:0006753

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000190658CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation
no assertion criteria provided
Likely pathogenic
(Jun 1, 2014) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190658.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024