ClinVar Miner

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

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Total submissions: 25
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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

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