ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2751T>C (p.Ser917=) (rs150780318)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216174 SCV000275966 likely benign Hereditary cancer-predisposing syndrome 2015-05-31 criteria provided, single submitter clinical testing
Color RCV000216174 SCV000911527 likely benign Hereditary cancer-predisposing syndrome 2017-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000444871 SCV000531187 likely benign not specified 2018-01-09 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 RCV000444871 SCV000919057 uncertain significance not specified 2018-06-18 criteria provided, single submitter clinical testing Variant summary: BRIP1 c.2751T>C alters a non-conserved nucleotide resulting in a synonymous change. The variant allele was found at a frequency of 4e-05 in 277116 control chromosomes. This frequency is not higher than expected for a pathogenic variant in BRIP1 causing Hereditary Breast and Ovarian Cancer (4e-05 vs 6.3e-05), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.2751T>C in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and both classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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