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NM_000314.8(PTEN):c.518G>A (p.Arg173His) AND Neoplasm of brain

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 14, 2015
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:
RCV000432256.2

Allele description [Variation Report for NM_000314.8(PTEN):c.518G>A (p.Arg173His)]

NM_000314.8(PTEN):c.518G>A (p.Arg173His)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
HGVS:
  • NC_000010.11:g.87952143G>A
  • NG_007466.2:g.93705G>A
  • NM_000314.8:c.518G>AMANE SELECT
  • NM_001304717.5:c.1037G>A
  • NM_001304718.2:c.-74G>A
  • NP_000305.3:p.Arg173His
  • NP_001291646.4:p.Arg346His
  • LRG_311t1:c.518G>A
  • LRG_311:g.93705G>A
  • NC_000010.10:g.89711900G>A
  • NM_000314.4:c.518G>A
  • NM_000314.6:c.518G>A
Protein change:
R173H
Links:
dbSNP: rs121913294
NCBI 1000 Genomes Browser:
rs121913294
Molecular consequence:
  • NM_001304718.2:c.-74G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000314.8:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.1037G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neoplasm of brain
Synonyms:
Brain tumour; Brain neoplasm; Brain Neoplasms
Identifiers:
MONDO: MONDO:0021211; MeSH: D001932; MedGen: C0006118; Human Phenotype Ontology: HP:0030692

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504815Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(Jul 14, 2015) 		somaticliterature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Combined PTEN Mutation and Protein Expression Associate with Overall and Disease-Free Survival of Glioblastoma Patients.

Xu J, Li Z, Wang J, Chen H, Fang JY.

Transl Oncol. 2014 Apr;7(2):196-205.e1. doi: 10.1016/j.tranon.2014.02.004. Epub 2014 Mar 4.

PubMed [citation]
PMID:
24721394
PMCID:
PMC4101389

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE, Garcia E, Shivdasani P, Ducar M, Adusumilli R, Breneiser M, Byrne M, Chung L, Conneely J, Crosby L, Garraway LA, Gong X, Hahn WC, Hatton C, Kantoff PW, Kluk M, Kuo F, Jia Y, Joshi R, Longtine J, Manning A, Palescandolo E, et al.

J Mol Diagn. 2014 Nov;16(6):660-72. doi: 10.1016/j.jmoldx.2014.06.004. Epub 2014 Aug 23.

PubMed [citation]
PMID:
25157968
PMCID:
PMC4210463

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504815.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024