ClinVar Miner

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

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Total submissions: 8
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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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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 2020-11-14 criteria provided, single submitter clinical testing
Color Health, Inc RCV000774932 SCV000908993 likely benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000254981 SCV001470007 uncertain significance not provided 2019-11-06 criteria provided, single submitter clinical testing
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000416553 SCV001737450 uncertain significance Hereditary breast and ovarian cancer syndrome 2021-05-27 criteria provided, single submitter clinical testing The BRCA1 c.5075-6C>A intronic change results from a a C to A substitution at the +6 position of intron 16 of the BRCA1 gene. Splice predictors are not inclusive as to whether or not this variant affects splicing and loss of function of the resulting protein product. Internal RNA data cannot conclusively determine the impact of this variant based on a low number of mutant reads (internal data). This variant is absent in gnomAD v2.1.1 (PM2_Supporting; https://gnomad.broadinstitute.org/). This variant is absent in the FLOSSIES database which contains genetic variants from women older than 70 years of age who have never had cancer (https://whi.color.com/). In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_Supporting.
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

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