ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) (rs61754141)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000124023 SCV000213125 likely benign Hereditary cancer-predisposing syndrome 2014-06-23 criteria provided, single submitter clinical testing
Color RCV000124023 SCV000684203 likely benign Hereditary cancer-predisposing syndrome 2015-12-08 criteria provided, single submitter clinical testing
Counsyl RCV000410265 SCV000489979 likely benign Fanconi anemia, complementation group J 2016-09-06 criteria provided, single submitter clinical testing
Counsyl RCV000411328 SCV000489980 likely benign Neoplasm of ovary 2016-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000212321 SCV000167432 benign not specified 2014-02-03 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 RCV000212321 SCV000593764 likely benign not specified 2015-09-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369155 SCV000404596 uncertain significance Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400763 SCV000404597 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000124023 SCV000679728 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586863 SCV000699688 benign not provided 2016-03-07 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.2286T>C variant affects a conserved nucleotide, resulting in no amino acid change. One in-silico tool predicts a damaging outcome for this variant. 3/5 programs in Alamut predict that this variant does not affect normal splicing. ESE finder predicts that this variant may affect ESE site of SF2/ASF (IgM-BRCA1). However, these predictions have not been confirmed by experimental studies. This variant is found in 61/121286 control chromosomes (1 homozygote) at a frequency of 0.0005029, which is about 8 times the maximal expected frequency of a pathogenic BRIP1 allele (0.0000625), suggesting this variant is benign. In addition, multiple clinical laboratories classified this variant as likely benign/benign. Taken together, this variant was classified as benign.
Invitae RCV000197387 SCV000252875 benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-12-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000212321 SCV000807132 benign not specified 2017-08-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212321 SCV000600902 likely benign not specified 2017-05-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586863 SCV000889213 benign not provided 2018-07-30 criteria provided, single submitter clinical testing

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