Submissions for variant NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) (rs799917)

Total submissions: 25

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000111903	SCV000244326	benign	Breast-ovarian cancer, familial 1	2015-08-10	reviewed by expert panel	curation	IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000000000204. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.1362 (African), 0.3654 (European), derived from 1000 genomes (2012-04-30).
Counsyl	RCV000111903	SCV000154002	benign	Breast-ovarian cancer, familial 1	2014-01-02	criteria provided, single submitter	literature only	High frequency in a 1kG or ESP population: 33.6 %.
Ambry Genetics	RCV000132149	SCV000187221	benign	Hereditary cancer-predisposing syndrome	2015-11-13	criteria provided, single submitter	clinical testing
Michigan Medical Genetics Laboratories,University of Michigan	RCV000111903	SCV000195909	benign	Breast-ovarian cancer, familial 1	2014-11-03	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000120285	SCV000202269	benign	not specified	2016-01-07	criteria provided, single submitter	clinical testing
Color	RCV000132149	SCV000292078	benign	Hereditary cancer-predisposing syndrome	2014-11-04	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000120285	SCV000311792	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000261383	SCV000403063	likely benign	Hereditary breast and ovarian cancer syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000261383	SCV000494311	benign	Hereditary breast and ovarian cancer syndrome	2013-12-19	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000114986	SCV000540955	benign	Familial cancer of breast	2017-02-23	criteria provided, single submitter	clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency	RCV000120285	SCV000586887	benign	not specified	2017-04-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000120285	SCV000602665	benign	not specified	2015-09-06	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000120285	SCV000605734	benign	not specified	2016-12-02	criteria provided, single submitter	clinical testing	p.Pro871Leu in exon 10 of BRCA1: This variant is not expected to have clinical s ignificance because it has been identified in 82% (8522/10402) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs799917}).
IntelligeneCG	RCV000111903	SCV000611724	benign	Breast-ovarian cancer, familial 1	2017-08-18	criteria provided, single submitter	clinical testing
GeneKor MSA	RCV000120285	SCV000693609	benign	not specified	2017-11-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht	RCV000111903	SCV000743412	benign	Breast-ovarian cancer, familial 1	2014-10-09	criteria provided, single submitter	clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center	RCV000111903	SCV000744651	benign	Breast-ovarian cancer, familial 1	2015-09-21	criteria provided, single submitter	clinical testing
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University,Faculty of Medicine Ramathibodi Hospital, Mahidol University	RCV000768562	SCV000899179	benign	Breast carcinoma	2019-04-22	criteria provided, single submitter	clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health	RCV000034735	SCV000043173	no known pathogenicity	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Benign.
ITMI	RCV000120285	SCV000084437	not provided	not specified	2013-09-19	no assertion provided	reference population
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111903	SCV000144492	benign	Breast-ovarian cancer, familial 1	1999-06-21	no assertion criteria provided	clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences	RCV000114986	SCV000148888	untested	Familial cancer of breast		no assertion provided	not provided	Converted during submission to not provided.
Sharing Clinical Reports Project (SCRP)	RCV000111903	SCV000189334	benign	Breast-ovarian cancer, familial 1	2011-03-22	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000111903	SCV000733639	benign	Breast-ovarian cancer, familial 1		no assertion criteria provided	clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000034735	SCV000778752	benign	not provided	2016-12-07	no assertion criteria provided	clinical testing