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NM_000546.5(TP53):c.637C>T (p.Arg213Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 19, 2015
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:
RCV000213050.1

Allele description

NM_000546.5(TP53):c.637C>T (p.Arg213Ter)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.5(TP53):c.637C>T (p.Arg213Ter)
HGVS:
  • NC_000017.11:g.7674894G>A
  • NG_017013.2:g.17657C>T
  • NM_000546.5:c.637C>T
  • NM_001126112.2:c.637C>T
  • NM_001126113.2:c.637C>T
  • NM_001126114.2:c.637C>T
  • NM_001126115.1:c.241C>T
  • NM_001126116.1:c.241C>T
  • NM_001126117.1:c.241C>T
  • NM_001126118.1:c.520C>T
  • NP_000537.3:p.Arg213Ter
  • NP_001119584.1:p.Arg213Ter
  • NP_001119585.1:p.Arg213Ter
  • NP_001119586.1:p.Arg213Ter
  • NP_001119587.1:p.Arg81Ter
  • NP_001119588.1:p.Arg81Ter
  • NP_001119589.1:p.Arg81Ter
  • NP_001119590.1:p.Arg174Ter
  • LRG_321t1:c.637C>T
  • LRG_321t2:c.637C>T
  • LRG_321t3:c.637C>T
  • LRG_321t4:c.637C>T
  • LRG_321t5:c.241C>T
  • LRG_321t6:c.241C>T
  • LRG_321t7:c.241C>T
  • LRG_321t8:c.520C>T
  • LRG_321:g.17657C>T
  • LRG_321p1:p.Arg213Ter
  • LRG_321p3:p.Arg213Ter
  • LRG_321p4:p.Arg213Ter
  • LRG_321p5:p.Arg81Ter
  • LRG_321p6:p.Arg81Ter
  • LRG_321p7:p.Arg81Ter
  • LRG_321p8:p.Arg174Ter
  • NC_000017.10:g.7578212G>A
  • NM_000546.4:c.637C>T
  • c.637C>T
  • p.Arg213Stop
  • p.Arg213X
  • p.R213*
  • p.R213*:CGA>TGA
Protein change:
R174*
Links:
dbSNP: rs397516436
NCBI 1000 Genomes Browser:
rs397516436
Molecular consequence:
  • NM_000546.5:c.637C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000149639GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Nov 19, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000149639.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This is a nonsense variant, denoted TP53 c.637C>T at the cDNA level and p.Arg213Ter (R213X) at the protein level. The substitution creates a nonsense variant, changing an Arginine to a premature stop codon (CGA>TGA). This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least one Li Fraumeni family (Horio 1994). In addition, the Arg213 and other downstream residues have been demonstrated to be crucial for proper functioning of the p53 protein (Fraser 2010).

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

Last Updated: Oct 3, 2016