ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8395A>G (p.Arg2799Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003293411 SCV004005409 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-29 criteria provided, single submitter clinical testing The p.R2799G variant (also known as c.8395A>G), located in coding exon 18 of the BRCA2 gene, results from an A to G substitution at nucleotide position 8395. The arginine at codon 2799 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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