ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA1) RCV000031223 SCV000145337 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided 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
Integrated Genetics/Laboratory Corporation of America RCV000225766 SCV000918775 pathogenic Hereditary breast and ovarian cancer syndrome 2018-09-10 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 246064 control chromosomes. 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). These data indicate that the variant is very likely to be associated with disease. Four 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 pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Invitae RCV000225766 SCV000076832 pathogenic Hereditary breast and ovarian cancer syndrome 2018-04-20 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000031223 SCV000296352 pathogenic Breast-ovarian cancer, familial 1 2015-06-09 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
Sharing Clinical Reports Project (SCRP) RCV000031223 SCV000053823 pathogenic Breast-ovarian cancer, familial 1 2010-09-01 no assertion criteria provided clinical testing
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

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