ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5075-6C>A (rs397507240)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254981 SCV000321438 uncertain significance not provided 2018-09-27 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5075-6C>A or IVS16-6C>A and consists of a C>A nucleotide substitution at the -6 position of intron 16 of the BRCA1 gene. Using alternate nomenclature, this variant would be defined as BRCA1 5194-6C>A. In silico analyses, which include splice predictors and evolutionary conservation, are inconsistent in their assessment as to whether or not the variant is damaging. BRCA1 5194-6C>A has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. This variant was not observed at a significant allele frequency in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether BRCA1 c.5075-6C>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000416553 SCV000494383 uncertain significance Hereditary breast and ovarian cancer syndrome 2014-10-20 criteria provided, single submitter clinical testing
Invitae RCV000416553 SCV000549298 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-11 criteria provided, single submitter clinical testing
Color RCV000774932 SCV000908993 likely benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031215 SCV000053815 uncertain significance Breast-ovarian cancer, familial 1 2011-03-21 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000031215 SCV001242068 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.