ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.426-12_426-9del (rs398122778)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462224 SCV000549557 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-09-05 criteria provided, single submitter clinical testing This sequence change falls in intron 4 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 not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 91816). 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.
Sharing Clinical Reports Project (SCRP) RCV000077724 SCV000109527 uncertain significance Breast-ovarian cancer, familial 2 2010-02-25 no assertion criteria provided clinical testing

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