ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8487+14T>A

dbSNP: rs767591414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233565 SCV000283343 likely benign Hereditary breast ovarian cancer syndrome 2024-01-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771417 SCV000903778 likely benign Hereditary cancer-predisposing syndrome 2015-10-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781147 SCV000919017 uncertain significance not specified 2018-10-15 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.8487+14T>A 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. 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 245768 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.8487+14T>A in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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