ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.80+4A>G

dbSNP: rs80358003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214129 SCV001385795 uncertain significance Hereditary breast ovarian cancer syndrome 2022-06-04 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 865073). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 2 of the BRCA1 gene. It does not directly change the encoded amino acid sequence of the BRCA1 protein. It affects a nucleotide within the consensus splice site. Experimental studies have shown that this variant affects BRCA1 function (PMID: 30209399). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Brotman Baty Institute, University of Washington RCV001072416 SCV001237794 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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