ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.357T>C (p.Asn119=) (rs786202477)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165303 SCV000216024 likely benign Hereditary cancer-predisposing syndrome 2014-08-05 criteria provided, single submitter clinical testing
Color RCV000165303 SCV000906609 likely benign Hereditary cancer-predisposing syndrome 2016-06-16 criteria provided, single submitter clinical testing
GeneDx RCV000435363 SCV000518151 likely benign not specified 2016-09-12 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 RCV000435363 SCV000919059 uncertain significance not specified 2018-06-22 criteria provided, single submitter clinical testing Variant summary: BRIP1 c.357T>C alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 246180 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.357T>C in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as "likely benign." Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000460235 SCV000558595 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-12-22 criteria provided, single submitter clinical testing

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