ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4096+6G>A (rs776270258)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475357 SCV000549414 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-12-04 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the BRCA1 gene. It does not directly change the encoded amino acid sequence of the BRCA1 protein. This variant is present in population databases (rs776270258, ExAC 0.001%). This variant has not been reported in the literature in individuals with a BRCA1-related disease, but has been reported in an individual affected with breast cancer in the Leiden Open-source Variation Database (PMID: 21520333). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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