ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6841G>C (p.Gly2281Arg)

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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 RCV004519811 SCV005029252 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-08 criteria provided, single submitter clinical testing The c.6841G>C variant (also known as p.G2281R), located in coding exon 10 of the BRCA2 gene, results from a G to C substitution at nucleotide position 6841. The amino acid change results in glycine to arginine at codon 2281, an amino acid with dissimilar properties. However, this change occurs in the last base pair of coding exon 10, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). This amino acid position is highly conserved in available vertebrate species. 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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