ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) (rs16941)

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Total submissions: 32
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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) 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).
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000114987 SCV000148889 benign Familial cancer of breast 2020-05-03 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 %.
Ambry Genetics RCV000128978 SCV000172864 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Michigan Medical Genetics Laboratories,University of Michigan RCV000112006 SCV000195914 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000120276 SCV000202268 benign not specified 2016-01-07 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).
Color Health, Inc RCV000128978 SCV000292082 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120276 SCV000311793 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000112006 SCV000403062 benign Breast-ovarian cancer, familial 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000353897 SCV000494314 benign Hereditary breast and ovarian cancer syndrome 2013-12-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000114987 SCV000540956 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282987 SCV000602663 benign none provided 2020-09-01 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000112006 SCV000744640 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
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
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
Invitae RCV000353897 SCV001000184 benign Hereditary breast and ovarian cancer syndrome 2020-12-01 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV001659939 SCV001878288 benign Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2020-01-20 criteria provided, single submitter curation
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.
ITMI RCV000120276 SCV000084428 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA1) RCV000112006 SCV000144644 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112006 SCV000189336 benign Breast-ovarian cancer, familial 1 2011-03-22 no assertion criteria provided 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
Mayo Clinic Laboratories, Mayo Clinic RCV000034738 SCV000778749 benign not provided 2016-12-07 no assertion criteria provided clinical testing
Center of Medical Genetics and Primary Health Care RCV001269365 SCV001448708 benign Malignant tumor of breast no assertion criteria provided clinical testing
Department of Medical Laboratory Science, Faculty of Allied Health Sciences,University of Peradeniya RCV000114987 SCV001477297 pathogenic Familial cancer of breast 2019-10-19 no assertion criteria provided research
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120276 SCV001550691 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000120276 SCV001906207 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000120276 SCV001953209 benign not specified no assertion criteria provided clinical testing

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