ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5080G>A (p.Glu1694Lys)

dbSNP: rs80356896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685872 SCV000813372 uncertain significance Hereditary breast ovarian cancer syndrome 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1694 of the BRCA1 protein (p.Glu1694Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 566134). Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is expected to disrupt BRCA1 protein function. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 11877378, 30209399). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV001076354 SCV001242085 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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