ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5153-12T>A (rs1567768851)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000773938 SCV000907638 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-14 criteria provided, single submitter clinical testing
Invitae RCV001058897 SCV001223495 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-14 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the BRCA1 gene. It does not directly change the encoded amino acid sequence of the BRCA1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer and/or ovarian cancer (PMID: 28364669). This variant has been reported to affect BRCA1 protein function (PMID: 30209399). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
Brotman Baty Institute,University of Washington RCV001077707 SCV001243674 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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