ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9117+3A>G (rs1555288517)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520876 SCV000616662 uncertain significance not provided 2017-09-21 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.9117+3A>G or IVS23+3A>G and consists of an A>G nucleotidesubstitution at the +3 position of intron 23 of the BRCA2 gene. Using alternate nomenclature, this variant would bedefined as BRCA2 9345+3A>G. This variant has not, to our knowledge, been published in the literature as pathogenicor benign. This variant was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000Genomes Consortium 2015, Lek 2016). The adenine (A) nucleotide that is altered is not conserved. In silico splicingmodels are uninformative; therefore, in the absence of RNA or functional studies, the actual effect of this variant isunknown. Based on currently available information, it is unclear whether BRCA2 c.9117+3A>G is pathogenic orbenign. We consider it to be a variant of uncertain significance.

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