NM_005027.3(PIK3R2):c.1681A>G (p.Asn561Asp) AND Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation

Clinical significance:Likely pathogenic (Last evaluated: Dec 26, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000430787.1

Allele description

NM_005027.3(PIK3R2):c.1681A>G (p.Asn561Asp)

Gene:
PIK3R2:phosphoinositide-3-kinase regulatory subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.11
Genomic location:
Preferred name:
NM_005027.3(PIK3R2):c.1681A>G (p.Asn561Asp)
HGVS:
  • NC_000019.10:g.18167251A>G
  • NG_033010.1:g.19074A>G
  • NM_005027.3:c.1681A>G
  • NP_005018.1:p.Asn561Asp
  • NC_000019.9:g.18278061A>G
Protein change:
N561D
Links:
dbSNP: rs1057519801
NCBI 1000 Genomes Browser:
rs1057519801
Molecular consequence:
  • NM_005027.3:c.1681A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
Identifiers:
MedGen: C0279763

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000505198Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(Dec 26, 2014)
somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability.

Cheung LW, Hennessy BT, Li J, Yu S, Myers AP, Djordjevic B, Lu Y, Stemke-Hale K, Dyer MD, Zhang F, Ju Z, Cantley LC, Scherer SE, Liang H, Lu KH, Broaddus RR, Mills GB.

Cancer Discov. 2011 Jul;1(2):170-85. doi: 10.1158/2159-8290.CD-11-0039. Epub 2011 Jun 7. Erratum in: Cancer Discov. 2012 Aug;2(8):750-1.

PubMed [citation]
PMID:
21984976
PMCID:
PMC3187555

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505198.1

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

Last Updated: Jul 21, 2018

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