ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.594-15G>C (rs80358102)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199123 SCV000253520 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000432797 SCV000525298 likely benign not specified 2017-08-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000584457 SCV000688646 likely benign Hereditary cancer-predisposing syndrome 2017-09-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000432797 SCV000916798 likely benign not specified 2018-08-24 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.594-15G>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing, which was confirmed by one splicing study (Houdayer_2012). The variant allele was found at a frequency of 1.6e-05 in 242938 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.594-15G>C, has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Wong-Brown_2015). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrences with other pathogenic variant(s) have been reported in the NHGRI databse (BRCA2 c.5576_5579delTTAA, p.Ile1859fsX3), providing supporting evidence for a benign role. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112749 SCV000145637 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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