ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5152+1G>C (rs80358094)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225766 SCV000076832 pathogenic Hereditary breast and ovarian cancer syndrome 2019-10-16 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 17 of the BRCA1 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic. This particular variant has been reported in individuals affected with breast and/or ovarian cancer (PMID: 9760198, 23239986, 25863477, 26845104). This variant is also known as IVS18+1G>C in the literature. ClinVar contains an entry for this variant (Variation ID: 37642). For these reasons, this variant has been classified as Pathogenic.
University of Washington Department of Laboratory Medicine, University of Washington RCV000031223 SCV000266033 pathogenic Breast-ovarian cancer, familial 1 2015-11-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000031223 SCV000296352 pathogenic Breast-ovarian cancer, familial 1 2015-06-09 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031223 SCV000326173 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759552 SCV000888935 pathogenic not provided 2015-06-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000225766 SCV000918775 pathogenic Hereditary breast and ovarian cancer syndrome 2019-11-22 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.5152+1G>C is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a 5 splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251212 control chromosomes (gnomAD). c.5152+1G>C has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer (Dong_1998, Wappenschmidt_2012, Kang_2015, Rebbeck_2018). These data indicate that the variant is very likely to be associated with disease. Four ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Ambry Genetics RCV001023623 SCV001185530 pathogenic Hereditary cancer-predisposing syndrome 2018-06-07 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Functionally-validated splicing mutation
Color RCV001023623 SCV001347409 pathogenic Hereditary cancer-predisposing syndrome 2015-01-19 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031223 SCV000053823 pathogenic Breast-ovarian cancer, familial 1 2010-09-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031223 SCV000145337 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000031223 SCV001241770 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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