ClinVar Miner

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

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Total submissions: 5
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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.
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 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-10-16 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the BRCA1 gene. It does not directly change the encoded amino acid sequence of the BRCA1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 37634). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
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

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