ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5193+1G>A (rs80358004)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083063 SCV000326198 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV001053397 SCV001217655 pathogenic Hereditary breast and ovarian cancer syndrome 2019-03-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 18 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 been observed in several individuals with personal and family history of breast and/or ovarian cancer (PMID: 25428789, 29446198, 29297111, 29487695). This variant is also known as 5312(ivs19)(+1)G>A or IVS19+1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 96942). This variant has been reported to disrupt mRNA splicing and/or protein function (PMID: 30209399). 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). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000083063 SCV000115137 pathogenic Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083063 SCV000145378 pathogenic Breast-ovarian cancer, familial 1 2013-03-25 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000083063 SCV001242333 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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