ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4357+1GT[2] (rs864622119)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205356 SCV000259385 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-07-10 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the BRCA1 mRNA. It does not directly change the encoded amino acid sequence of the BRCA1 protein. This variant has not been published in the literature and is not present in population databases. Nucleotide disruption at +5 position are relatively common causes of aberrant splicing (PMID: 17576681) but according to multiple splice site algorithms this particular variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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