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NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Breast neoplasm

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 31, 2016
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:
RCV000431151.1

Allele description [Variation Report for NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)]

NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)

Gene:
PIK3CA:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.32
Genomic location:
Preferred name:
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)
HGVS:
  • NC_000003.12:g.179218306C>G
  • NG_012113.2:g.74784C>G
  • NM_006218.4:c.1636C>GMANE SELECT
  • NP_006209.2:p.Gln546Glu
  • LRG_310t1:c.1636C>G
  • LRG_310:g.74784C>G
  • LRG_310p1:p.Gln546Glu
  • NC_000003.11:g.178936094C>G
  • P42336:p.Gln546Glu
Protein change:
Q546E; GLN546GLU
Links:
UniProtKB: P42336#VAR_026179; OMIM: 171834.0006; dbSNP: rs121913286
NCBI 1000 Genomes Browser:
rs121913286
Molecular consequence:
  • NM_006218.4:c.1636C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Breast neoplasm
Synonyms:
Neoplasm of breast; Breast tumor; Neoplasm of the breast; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021100; MeSH: D001943; MedGen: C1458155; Human Phenotype Ontology: HP:0100013

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504055Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(May 31, 2016) 		somaticliterature only

PubMed (9)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinoma.

Saal LH, Holm K, Maurer M, Memeo L, Su T, Wang X, Yu JS, Malmström PO, Mansukhani M, Enoksson J, Hibshoosh H, Borg A, Parsons R.

Cancer Res. 2005 Apr 1;65(7):2554-9.

PubMed [citation]
PMID:
15805248

Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials.

Clarke PA, Workman P.

J Clin Oncol. 2012 Jan 20;30(3):331-3. doi: 10.1200/JCO.2011.38.7167. Epub 2011 Dec 12. No abstract available.

PubMed [citation]
PMID:
22162582
See all PubMed Citations (9)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504055.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (9)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 16, 2023