ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8755-9T>C (rs397507413)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000773154 SCV000906690 likely benign Hereditary cancer-predisposing syndrome 2016-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000766305 SCV000279867 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8755-9T>C or IVS21-9T>C and consists of a T>C nucleotide substitution at the -9 position of intron 21 of the BRCA2 gene. Using alternate nomenclature, this variant would be defined as BRCA2 8983-9T>C. In silico analyses, which include splice predictors and evolutionary conservation, are inconsistent in their assessment as to whether or not the variant is damaging.? This variant 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 BRCA2 c.8755-9T>C is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000204967 SCV000261542 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000214802 SCV000600822 uncertain significance not specified 2016-09-19 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031768 SCV000054376 uncertain significance Breast-ovarian cancer, familial 2 2012-02-02 no assertion criteria provided clinical testing

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