ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) (rs28897762)

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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000656626 SCV000602883 likely benign not provided 2017-05-26 criteria provided, single submitter clinical testing The c.10110G>A variant (rs28897762) has not been previously associated with any hereditary cancer syndrome and is listed in the ClinVar database as benign or likely benign (Variation ID: 51043). This variant is rare in the general population, and is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in Finnish populations of 0.21% (identified in 54 out of 25,790 chromosomes). However, this variant affects a weakly conserved nucleotide (Alamut software v 2.9), does not alter the amino acid sequence of BRCA2 protein, and is not predicted to alter BRCA2 mRNA splicing (Alamut software v 2.9). Therefore, the c.10110G>A variant is likely to be benign.
Ambry Genetics RCV000162524 SCV000212919 likely benign Hereditary cancer-predisposing syndrome 2014-06-27 criteria provided, single submitter clinical testing
Baylor Miraca Genetics Laboratories, RCV000464865 SCV000541035 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112841 SCV000145753 uncertain significance Breast-ovarian cancer, familial 2 2000-06-12 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768612 SCV000219431 likely benign Breast and/or ovarian cancer 2017-09-07 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000168619 SCV000586994 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000162524 SCV000683393 benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112841 SCV000744795 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168619 SCV000592311 benign not specified 2013-03-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112841 SCV000733343 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168619 SCV000708489 likely benign not specified 2017-05-15 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112841 SCV000578017 benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.002 (Non-Finnish European), 0.0018 (Finnish), 0.0014 (South Asian), derived from ExAC (2014-12-17).
GeneDx RCV000168619 SCV000167427 benign not specified 2013-12-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000168619 SCV000593734 likely benign not specified 2017-05-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112841 SCV000743530 benign Breast-ovarian cancer, familial 2 2014-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260989 SCV000383809 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000043713 SCV000383810 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000043713 SCV000494297 benign Hereditary breast and ovarian cancer syndrome 2014-01-27 criteria provided, single submitter clinical testing
Invitae RCV000043713 SCV000071726 benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656626 SCV000778728 likely benign not provided 2017-05-15 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112841 SCV000196033 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000656626 SCV000805641 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162524 SCV000787914 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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