ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) (rs104886003)

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Total submissions: 37
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000421583 SCV000503934 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431416 SCV000503935 pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438587 SCV000503936 pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422210 SCV000503937 pathogenic Ovarian Neoplasms 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000038671 SCV000503938 pathogenic Non-small cell lung cancer 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441949 SCV000503939 likely pathogenic Brainstem glioma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425490 SCV000503940 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433976 SCV000503941 likely pathogenic Small cell lung cancer 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441866 SCV000503942 likely pathogenic Uterine Carcinosarcoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426520 SCV000503943 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438060 SCV000503944 likely pathogenic Carcinoma of gallbladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420851 SCV000503945 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427202 SCV000503946 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437876 SCV000503947 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418058 SCV000503948 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428639 SCV000503949 likely pathogenic Nasopharyngeal Neoplasms 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438445 SCV000503950 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000417835 SCV000503951 likely pathogenic Adenocarcinoma of prostate 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429391 SCV000503952 likely pathogenic Uterine cervical neoplasms 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440053 SCV000503953 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421958 SCV000503954 likely pathogenic Renal cell carcinoma, papillary, 1 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432636 SCV000503955 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440694 SCV000503956 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423327 SCV000503957 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433152 SCV000503958 likely pathogenic Papillary renal cell carcinoma, sporadic 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442569 SCV000503959 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
GeneReviews RCV000055930 SCV000086943 pathologic Megalencephaly cutis marmorata telangiectatica congenita 2013-08-15 no assertion criteria provided curation Converted during submission to Pathogenic.
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000422210 SCV000924160 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038671 SCV000062349 pathogenic Non-small cell lung cancer 2009-05-29 no assertion criteria provided clinical testing
Laboratory of Translational Genomics, National Cancer Institute RCV000119356 SCV000154253 not provided Sarcoma no assertion provided not provided
OMIM RCV000014631 SCV000034886 pathogenic Breast adenocarcinoma 2012-06-24 no assertion criteria provided literature only
OMIM RCV000014632 SCV000034887 pathogenic Ovarian epithelial cancer 2012-06-24 no assertion criteria provided literature only
OMIM RCV000014633 SCV000034888 pathogenic Carcinoma of colon 2012-06-24 no assertion criteria provided literature only
OMIM RCV000014634 SCV000034889 pathogenic Neoplasm of stomach 2012-06-24 no assertion criteria provided literature only
OMIM RCV000038671 SCV000034890 pathogenic Non-small cell lung cancer 2012-06-24 no assertion criteria provided literature only
OMIM RCV000014636 SCV000034891 pathogenic Keratosis, seborrheic 2012-06-24 no assertion criteria provided literature only
OMIM RCV000055930 SCV000056678 pathogenic Megalencephaly cutis marmorata telangiectatica congenita 2012-06-24 no assertion criteria provided literature only

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