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NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Neoplasm of the large intestine

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:
RCV000431872.9

Allele description [Variation Report for NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)]

NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)

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.1624G>A (p.Glu542Lys)
Other names:
NM_006218.3(PIK3CA):c.1624G>A; NM_006218.4(PIK3CA):c.1624G>A
HGVS:
  • NC_000003.12:g.179218294G>A
  • NG_012113.2:g.74772G>A
  • NM_006218.4:c.1624G>AMANE SELECT
  • NP_006209.2:p.Glu542Lys
  • LRG_310t1:c.1624G>A
  • LRG_310:g.74772G>A
  • NC_000003.11:g.178936082G>A
  • NM_006218.2:c.1624G>A
  • NM_006218.3:c.1624G>A
  • P42336:p.Glu542Lys
  • NM_006218.2:c.1625G>A
Protein change:
E542K; GLU542LYS
Links:
UniProtKB: P42336#VAR_026173; OMIM: 171834.0009; dbSNP: rs121913273
NCBI 1000 Genomes Browser:
rs121913273
Molecular consequence:
  • NM_006218.4:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
gain_of_function_variant [Sequence Ontology: SO:0002053]

Condition(s)

Name:
Neoplasm of the large intestine
Synonyms:
Colorectal Neoplasms; Colorectal neoplasm
Identifiers:
MONDO: MONDO:0005335; MeSH: D015179; MedGen: C0009404; Human Phenotype Ontology: HP:0100834

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000503918Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(May 31, 2016) 		somaticliterature only

PubMed (14)
[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

High frequency of mutations of the PIK3CA gene in human cancers.

Samuels Y, Wang Z, Bardelli A, Silliman N, Ptak J, Szabo S, Yan H, Gazdar A, Powell SM, Riggins GJ, Willson JK, Markowitz S, Kinzler KW, Vogelstein B, Velculescu VE.

Science. 2004 Apr 23;304(5670):554. Epub 2004 Mar 11. No abstract available.

PubMed [citation]
PMID:
15016963

Regorafenib in metastatic colorectal cancer.

Sartore-Bianchi A, Zeppellini A, Amatu A, Ricotta R, Bencardino K, Siena S.

Expert Rev Anticancer Ther. 2014 Mar;14(3):255-65. doi: 10.1586/14737140.2014.894887.

PubMed [citation]
PMID:
24559322
See all PubMed Citations (14)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000503918.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (14)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024