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NM_000546.6(TP53):c.215C>G (p.Pro72Arg) AND cisplatin response - Efficacy, Toxicity/ADR

Germline classification:
drug response (1 submission)
Last evaluated:
Oct 17, 2016
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000211395.1

Allele description

NM_000546.6(TP53):c.215C>G (p.Pro72Arg)

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.215C>G (p.Pro72Arg)
HGVS:
  • NC_000017.11:g.7676154G>C
  • NG_017013.2:g.16397C>G
  • NM_000546.5:c.215C>G
  • NM_000546.6:c.215C>GMANE SELECT
  • NM_001126112.2:c.215C>G
  • NM_001126113.2:c.215C>G
  • NM_001126114.2:c.215C>G
  • NM_001126118.1:c.98C>G
  • NM_001276695.2:c.98C>G
  • NM_001276696.2:c.98C>G
  • NM_001276760.2:c.98C>G
  • NM_001276761.2:c.98C>G
  • NP_000537.3:p.Pro72Arg
  • NP_000537.3:p.Pro72Arg
  • NP_000537.3:p.Pro72Arg
  • NP_001119584.1:p.Pro72Arg
  • NP_001119585.1:p.Pro72Arg
  • NP_001119586.1:p.Pro72Arg
  • NP_001119590.1:p.Pro33Arg
  • NP_001263624.1:p.Pro33Arg
  • NP_001263625.1:p.Pro33Arg
  • NP_001263689.1:p.Pro33Arg
  • NP_001263690.1:p.Pro33Arg
  • LRG_321t1:c.215C>G
  • LRG_321t2:c.215C>G
  • LRG_321t3:c.215C>G
  • LRG_321t4:c.215C>G
  • LRG_321t8:c.98C>G
  • LRG_321:g.16397C>G
  • LRG_321:p.Pro72Arg
  • LRG_321p1:p.Pro72Arg
  • LRG_321p3:p.Pro72Arg
  • LRG_321p4:p.Pro72Arg
  • LRG_321p8:p.Pro33Arg
  • NC_000017.10:g.7579472G>C
  • NM_000546.4:c.215C>G
  • P04637:p.Pro72Arg
  • p.P72R
Protein change:
P33R; PRO72ARG
Links:
PharmGKB: 655386635; PharmGKB: 655386635PA128406956; PharmGKB: 655386635PA449014; PharmGKB: 655386635PA449165; PharmGKB: 655386635PA450761; PharmGKB: 655386635PA452621; PharmGKB Clinical Annotation: 655386635; UniProtKB: P04637#VAR_005856; OMIM: 191170.0005; dbSNP: rs1042522
NCBI 1000 Genomes Browser:
rs1042522
Molecular consequence:
  • NM_000546.5:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000546.6:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.2:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.2:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.2:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.1:c.98C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.2:c.98C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.2:c.98C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.2:c.98C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.2:c.98C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
cisplatin response - Efficacy, Toxicity/ADR
Identifiers:
MedGen: CN236501

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000268127PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)		drug response
(Oct 17, 2016)
Condition: cisplatin response - Efficacy, Toxicity/ADR
Drug reported used for: Breast Neoplasms		germlinecuration

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Prognostic role of p53 codon 72 polymorphism in gastric cancer patients treated with fluorouracil-based adjuvant chemotherapy.

Huang ZH, Hua D, Li LH, Zhu JD.

J Cancer Res Clin Oncol. 2008 Oct;134(10):1129-34. doi: 10.1007/s00432-008-0380-8. Epub 2008 Mar 21.

PubMed [citation]
PMID:
18357466

TP53 codon 72 polymorphism associated with prognosis in patients with advanced gastric cancer treated with paclitaxel and cisplatin.

Kim JG, Sohn SK, Chae YS, Song HS, Kwon KY, Do YR, Kim MK, Lee KH, Hyun MS, Lee WS, Sohn CH, Jung JS, Kim GC, Chung HY, Yu W.

Cancer Chemother Pharmacol. 2009 Jul;64(2):355-60. doi: 10.1007/s00280-008-0879-3. Epub 2008 Dec 4.

PubMed [citation]
PMID:
19052714
See all PubMed Citations (7)

Details of each submission

From PharmGKB, SCV000268127.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (7)

Description

PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.

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

Last Updated: Sep 26, 2021