ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.790C>T (p.Arg264Trp) (rs28997569)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120409 SCV000150073 likely benign not specified 2017-12-08 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.
Invitae RCV000679792 SCV000166689 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000116164 SCV000183754 likely benign Hereditary cancer-predisposing syndrome 2017-12-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
Genetic Services Laboratory, University of Chicago RCV000120409 SCV000246815 likely benign not specified 2015-08-02 criteria provided, single submitter clinical testing
Counsyl RCV000411226 SCV000489857 likely benign Fanconi anemia, complementation group J 2016-07-18 criteria provided, single submitter clinical testing
Counsyl RCV000409223 SCV000489858 likely benign Neoplasm of ovary 2016-07-18 criteria provided, single submitter clinical testing
Color RCV000116164 SCV000537408 likely benign Hereditary cancer-predisposing syndrome 2015-01-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120409 SCV000600930 likely benign not specified 2017-04-17 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine,University of Washington RCV000515771 SCV000611880 likely benign Familial cancer of breast 2018-03-28 criteria provided, single submitter research The BRIP1 variant designated as NM_032043.2:c.790C>T (p.Arg264Trp) is now classified as likely benign. The variant is present in approximately 1 in 500 individuals in European and African populations (exac.broadinstitute.org). This population frequency is not consistent with a high-risk cancer variant. In addition, there are no reports of pathogenic missense variants in this BRIP1 protein domain. This variant has been classified as likely benign by other laboratories (ClinVar Variation ID: 128195). Bayesian analysis integrating all of this data (Tavtigian et al, 2018, PMID:29300386) gives a 1% probability of pathogenicity, which is consistent with a classification of likely benign. This variant is not predicted to alter BRIP1 function or modify cancer risk. A modest (less than 2 fold) increase in cancer risk due to this variant cannot be entirely excluded. This reclassification analysis was performed in conjunction with the family studies project as part of the University of Washington Find My Variant Study.
PreventionGenetics,PreventionGenetics RCV000679792 SCV000807157 likely benign not provided 2017-10-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679792 SCV000889226 likely benign not provided 2018-06-04 criteria provided, single submitter clinical testing
ITMI RCV000120409 SCV000084561 not provided not specified 2013-09-19 no assertion provided reference population

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