ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2232C>T (p.Asp744=) (rs374362388)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000160343 SCV000216141 likely benign Hereditary cancer-predisposing syndrome 2014-08-18 criteria provided, single submitter clinical testing
Color RCV000160343 SCV000684195 likely benign Hereditary cancer-predisposing syndrome 2015-07-27 criteria provided, single submitter clinical testing
Counsyl RCV000411109 SCV000490011 likely benign Fanconi anemia, complementation group J 2016-09-26 criteria provided, single submitter clinical testing
Counsyl RCV000411860 SCV000490012 likely benign Neoplasm of ovary 2016-09-26 criteria provided, single submitter clinical testing
GeneDx RCV000212319 SCV000210849 benign not specified 2014-07-30 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.
Integrated Genetics/Laboratory Corporation of America RCV000589994 SCV000699684 benign not provided 2016-12-09 criteria provided, single submitter clinical testing Variant summary: The c.2232C>T (p.Asp744=) in BRIP1 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.00009 (11/121376 chrs tested), predominantly in individuals of Latino origin (0.0004; 5/11574 chrs). The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant in this gene (0.00006), suggesting that it is a benign polymorphism. The variant of interest has been cited as Benign by multiple reputable databases/clinical laboratories. Taking together, the variant was classified as Benign.
Invitae RCV000226976 SCV000291006 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-12-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000589994 SCV000807128 likely benign not provided 2017-12-20 criteria provided, single submitter clinical testing

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