ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.67+19T>C (rs587780865)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123939 SCV000167326 benign not specified 2014-05-30 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.
Invitae RCV000234513 SCV000283297 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-11 criteria provided, single submitter clinical testing
Color Health, Inc RCV000581088 SCV000683801 likely benign Hereditary cancer-predisposing syndrome 2016-08-01 criteria provided, single submitter clinical testing
Counsyl RCV000662982 SCV000785967 likely benign Breast-ovarian cancer, familial 2 2018-01-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000123939 SCV001360636 likely benign not specified 2021-01-15 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.67+19T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-05 in 150998 control chromosomes. To our knowledge, no occurrence of c.67+19T>C in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. After an extensive review of literature spanning 6 years (2014-2021), no compelling evidence supporting a pathogenic outcome has been ascertained, therefore the variant has been classified as likely benign.

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