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

Germline classification:
None
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:
Oncogenic (1 submission)
Last evaluated:
Jul 31, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Record status:
current
Accession:
RCV004668742.1

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
Synonyms:
Neoplasms; Neoplasm (disease)
Identifiers:
MONDO: MONDO:0005070; MeSH: D009369; MedGen: C0027651; Human Phenotype Ontology: HP:0002664

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005094532Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
criteria provided, single submitter

(ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022)		Oncogenic
(Jul 31, 2024) 		somaticclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).

Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Laing L, Rieke D, Kreutzfeldt S, Stenzinger A, Tamborero D, Benary M, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, Campregher PV, et al.

Genet Med. 2022 May;24(5):986-998. doi: 10.1016/j.gim.2022.01.001. Epub 2022 Jan 29. Erratum in: Genet Med. 2022 Sep;24(9):1991. doi: 10.1016/j.gim.2022.07.001.

PubMed [citation]
PMID:
35101336
PMCID:
PMC9081216

Details of each submission

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV005094532.1

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

Last Updated: Nov 10, 2024