ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) (rs16941)

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Total submissions: 25
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120276 SCV000602663 benign not specified 2015-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128978 SCV000172864 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000114987 SCV000540956 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034738 SCV000043170 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112006 SCV000144644 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120276 SCV000586890 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University,Faculty of Medicine Ramathibodi Hospital, Mahidol University RCV000768563 SCV000899178 benign Breast carcinoma 2019-04-22 criteria provided, single submitter clinical testing
Color RCV000128978 SCV000292082 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
Counsyl RCV000112006 SCV000154001 benign Breast-ovarian cancer, familial 1 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 32.5 %.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112006 SCV000744640 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112006 SCV000733631 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120276 SCV000202268 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112006 SCV000244333 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), 0.128 (African), 0.3575 (European), derived from 1000 genomes (2012-04-30).
Fulgent Genetics,Fulgent Genetics RCV000755638 SCV000883035 benign Familial cancer of breast; Breast-ovarian cancer, familial 1; Pancreatic cancer 4; FANCONI ANEMIA, COMPLEMENTATION GROUP S 2018-10-31 criteria provided, single submitter clinical testing
GeneKor MSA RCV000120276 SCV000693610 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112006 SCV000743408 benign Breast-ovarian cancer, familial 1 2014-10-09 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000114987 SCV000148889 untested Familial cancer of breast no assertion provided not provided Converted during submission to not provided.
ITMI RCV000120276 SCV000084428 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000353897 SCV000403062 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000353897 SCV000494314 benign Hereditary breast and ovarian cancer syndrome 2013-12-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120276 SCV000268807 benign not specified 2016-03-18 criteria provided, single submitter clinical testing p.Glu1038Gly in exon 10 of BRCA1: This variant is not expected to have clinical significance because it has been identified in 34.3% (41604/121342) of all chrom osomes tested by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs16941).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034738 SCV000778749 benign not provided 2016-12-07 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112006 SCV000195914 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120276 SCV000311793 benign not specified criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112006 SCV000189336 benign Breast-ovarian cancer, familial 1 2011-03-22 no assertion criteria provided clinical testing

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