ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1989C>A (p.Thr663=) (rs376628979)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165903 SCV000216658 likely benign Hereditary cancer-predisposing syndrome 2014-10-01 criteria provided, single submitter clinical testing
Color RCV000165903 SCV000909770 likely benign Hereditary cancer-predisposing syndrome 2017-11-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780056 SCV000917077 uncertain significance not specified 2018-04-30 criteria provided, single submitter clinical testing Variant summary: BRIP1 c.1989C>A 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. This frequency is not significantly higher than expected for a pathogenic variant in BRIP1 causing Hereditary Breast and Ovarian Cancer (8.1e-06 vs 6.3e-05), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1989C>A in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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