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NM_000546.5(TP53):c.637C>T (p.Arg213Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 23, 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:
RCV000115730.7

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)
Other names:
p.R213*:CGA>TGA
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*
Protein change:
R174*
Links:
dbSNP: rs397516436
NCBI 1000 Genomes Browser:
rs397516436
Allele Frequency:
0.00001(A)
Molecular consequence:
  • NM_000546.5:c.637C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000186844Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Pathogenic
(Sep 23, 2016) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.

Wong P, Verselis SJ, Garber JE, Schneider K, DiGianni L, Stockwell DH, Li FP, Syngal S.

Gastroenterology. 2006 Jan;130(1):73-9.

PubMed [citation]
PMID:
16401470

Gastric cancer in individuals with Li-Fraumeni syndrome.

Masciari S, Dewanwala A, Stoffel EM, Lauwers GY, Zheng H, Achatz MI, Riegert-Johnson D, Foretova L, Silva EM, Digianni L, Verselis SJ, Schneider K, Li FP, Fraumeni J, Garber JE, Syngal S.

Genet Med. 2011 Jul;13(7):651-7. doi: 10.1097/GIM.0b013e31821628b6.

PubMed [citation]
PMID:
21552135
PMCID:
PMC3595598
See all PubMed Citations (10)

Details of each submission

From Ambry Genetics, SCV000186844.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (10)

Description

Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 10, 2018