ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.*14C>G (rs1064796142)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480009 SCV000572603 uncertain significance not specified 2017-01-03 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.*14C>G and consists of a C>G nucleotide substitution 14 base pairs downstream of the translational stop codon in the 3Â’ untranslated region (3Â’UTR) of the BRCA1 gene. This variant has not, to our knowledge, been published in the literature as either a pathogenic variant or a benign polymorphism. In silico models predict that BRCA1 c.*14C>G does not affect splicing, and the Cytosine nucleotide that is altered is not conserved. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available information, we consider BRCA1 c.*14C>G to be a variant of uncertain significance.

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