ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4358-1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058163 SCV001222711 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-03-19 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 12 of the BRCA1 gene. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. Experimental studies have shown that sequence changes that disrupt this acceptor splice site may alter splicing of exon 13 (also referred to as exon 14 in the literature), resulting in the deletion of 1 amino acid of the BRCA1 protein, thereby preserving the integrity of the reading frame (PMID: 24569164). This alternative in-frame transcript has also been reported to occur naturally in healthy individuals (PMID: 24569164). 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.

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