ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5278-2A>C

dbSNP: rs397509253
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Center, Key Laboratory of Carcinogenesis and Translational Research RCV001254334 SCV001430318 likely pathogenic Hereditary breast ovarian cancer syndrome 2020-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001254334 SCV005781138 pathogenic Hereditary breast ovarian cancer syndrome 2024-08-08 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 19 of the BRCA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with hereditary breast and/or ovarian cancer (PMID: 35864222). ClinVar contains an entry for this variant (Variation ID: 868283). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of this splice site affects BRCA1 function (PMID: 30209399, 32803532). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Brotman Baty Institute, University of Washington RCV001077157 SCV001243035 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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