ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5152+5G>A (rs80358165)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA1) RCV000083217 SCV000145341 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083217 SCV000326178 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779869 SCV000916740 pathogenic Hereditary breast and ovarian cancer syndrome 2018-03-26 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.5152+5G>A alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5' splicing donor site and one predict a significant weaking effect on the 5' donor site. At least one publication reports experimental evidence that this variant affects mRNA splicing, with skipping of exon 18 (Campos_2003). The variant was absent in 246244 control chromosomes (gnomAD). c.5152+5G>A has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer (Jimenez_2013, Diez_2003, Shi_2017, Campos_2003). These data indicate that the variant is very likely to be associated with disease. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000083217 SCV000115291 likely pathogenic Breast-ovarian cancer, familial 1 2012-11-21 no assertion criteria provided clinical testing

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