ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.301+2T>C (rs1567811002)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696426 SCV000824987 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-02-19 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the BRCA1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. 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. ClinVar contains an entry for this variant (Variation ID: 574486). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). However, other variants within this consensus splice site have been shown not to affect splicing (PMID: 21769658), and were reported as non-deleterious (PMID: 21769658, 28408614). 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 RCV001072784 SCV001238230 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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