ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.-39-2A>G (rs1555280053)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000624975 SCV000744374 pathogenic Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624975 SCV000743231 likely pathogenic Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
Invitae RCV000687385 SCV000814949 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-06-08 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the BRCA2 gene. It does not directly change the encoded amino acid sequence of the BRCA2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 438974). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507187 SCV000600569 likely pathogenic not provided 2017-03-08 criteria provided, single submitter clinical testing

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