ClinVar Miner

Submissions for variant NM_007300.4(BRCA1):c.4875A>G (p.Gln1625=) (rs28897693)

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Total submissions: 17
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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) RCV000112404 SCV000577999 benign Breast-ovarian cancer, familial 1 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 0.0043 (South Asian), derived from ExAC (2014-12-17).
Invitae RCV000585287 SCV000076678 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Counsyl RCV000112404 SCV000153995 likely benign Breast-ovarian cancer, familial 1 2014-01-02 criteria provided, single submitter literature only
GeneDx RCV000168511 SCV000167311 benign not specified 2013-10-18 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.
Ambry Genetics RCV000162689 SCV000213143 likely benign Hereditary cancer-predisposing syndrome 2014-07-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000168511 SCV000219250 benign not specified 2017-03-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV000471716 SCV000540970 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168511 SCV000591539 benign not specified 2014-01-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000585287 SCV000602733 benign not provided 2017-10-01 criteria provided, single submitter clinical testing
Color RCV000162689 SCV000683217 benign Hereditary cancer-predisposing syndrome criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585287 SCV000692907 likely benign not provided 2017-08-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112404 SCV000743388 likely benign Breast-ovarian cancer, familial 1 2014-12-29 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112404 SCV000744608 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000585287 SCV000806960 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112404 SCV000145186 uncertain significance Breast-ovarian cancer, familial 1 2011-07-08 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112404 SCV000733605 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
True Health Diagnostics RCV000162689 SCV000805233 likely benign Hereditary cancer-predisposing syndrome 2018-04-25 no assertion criteria provided clinical testing

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