Submissions for variant NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) (rs121913279)

Total submissions: 34

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana	RCV000626894	SCV000747597	pathogenic	Macrodactyly of toe; Stroke	2017-01-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000987367	SCV001136646	pathogenic	Cowden syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001253236	SCV001428854	pathogenic	Megalencephaly-capillary malformation-polymicrogyria syndrome	2018-11-07	criteria provided, single submitter	clinical testing	This variant was identified as de novo
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	RCV001526597	SCV001737026	pathogenic	Hemihypertrophy		criteria provided, single submitter	clinical testing
OMIM	RCV000014629	SCV000034884	pathogenic	Breast adenocarcinoma	2012-06-24	no assertion criteria provided	literature only
OMIM	RCV000032905	SCV000056677	pathogenic	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	2012-06-24	no assertion criteria provided	literature only
GeneReviews	RCV000032905	SCV000086945	pathologic	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	2013-08-15	no assertion criteria provided	curation	Converted during submission to Pathogenic.
Genomics and Pathology Services,Washington University in St.Louis	RCV000201235	SCV000255986	pathogenic	PIK3CA related overgrowth spectrum	2014-11-25	no assertion criteria provided	clinical testing
Database of Curated Mutations (DoCM)	RCV000427278	SCV000504132	likely pathogenic	Hepatocellular carcinoma	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000438270	SCV000504133	pathogenic	Neoplasm of the large intestine	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000417557	SCV000504134	likely pathogenic	Pancreatic adenocarcinoma	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000428229	SCV000504135	pathogenic	Non-small cell lung cancer	2014-10-02	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000435425	SCV000504136	likely pathogenic	Ovarian Serous Cystadenocarcinoma	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000418190	SCV000504137	likely pathogenic	Medulloblastoma	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000428866	SCV000504138	likely pathogenic	Adrenocortical carcinoma	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000439524	SCV000504139	likely pathogenic	Neoplasm of uterine cervix	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000422323	SCV000504140	pathogenic	Neoplasm of ovary	2014-10-02	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000429614	SCV000504141	likely pathogenic	Transitional cell carcinoma of the bladder	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000440269	SCV000504142	pathogenic	Breast neoplasm	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000423048	SCV000504143	likely pathogenic	Squamous cell carcinoma of the head and neck	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000433765	SCV000504144	likely pathogenic	Uterine Carcinosarcoma	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000443510	SCV000504145	likely pathogenic	Neoplasm of brain	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000423706	SCV000504146	likely pathogenic	Squamous cell lung carcinoma	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000434398	SCV000504147	likely pathogenic	Glioblastoma	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000443341	SCV000504148	likely pathogenic	Adenocarcinoma of stomach	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000427664	SCV000504149	likely pathogenic	Carcinoma of esophagus	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000434874	SCV000504150	likely pathogenic	Malignant neoplasm of body of uterus	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000442340	SCV000504151	likely pathogenic	Brainstem glioma	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000424813	SCV000504152	likely pathogenic	Malignant melanoma of skin	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000435543	SCV000504153	likely pathogenic	Lung adenocarcinoma	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000418315	SCV000504154	likely pathogenic	Adenocarcinoma of prostate	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000425496	SCV000504155	likely pathogenic	Renal cell carcinoma, papillary, 1	2016-05-31	no assertion criteria provided	literature only
OMIM	RCV000709692	SCV000839592	pathogenic	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	2012-06-24	no assertion criteria provided	literature only
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne	RCV000422323	SCV000923937	pathogenic	Neoplasm of ovary	2018-12-01	no assertion criteria provided	research