ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8488-10A>G (rs749196803)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480693 SCV000567680 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8488-10A>G or IVS19-10A>G and consists of an A>G nucleotide substitution at the -10 position of intron 19 of the BRCA2 gene. Using alternate nomenclature, this variant would be defined as BRCA2 8716-10A>G. In silico models are inconclusive with respect to splicing, and in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 c.8488-10A>G was not observed at a significant allele frequency in large population cohorts (Lek 2016). The adenine (A) nucleotide that is altered is conserved in mammals. Based on currently available information, it is unclear whether BRCA2 c.8488-10A>G is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV000463791 SCV000560367 likely benign Hereditary breast and ovarian cancer syndrome 2016-10-16 criteria provided, single submitter clinical testing

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