ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8351G>T (p.Arg2784Leu) (rs80359076)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV000582573 SCV000689117 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582573 SCV001178699 likely pathogenic Hereditary cancer-predisposing syndrome 2020-01-24 criteria provided, single submitter clinical testing The p.R2784L variant (also known as c.8351G>T), located in coding exon 18 of the BRCA2 gene, results from a G to T substitution at nucleotide position 8351. The arginine at codon 2784 is replaced by leucine, an amino acid with dissimilar properties. A close-match alteration at this same codon, p.R2784W, is considered likely pathogenic. This alteration was non-functional in a homology-directed DNA repair (HDR) assay (Ambry internal data). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD) (Lek M et al. Nature, 2016 08;536:285-91). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284109 SCV001469717 uncertain significance not provided 2020-04-10 criteria provided, single submitter clinical testing

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