ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8707G>A (p.Glu2903Lys)

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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 RCV003182497 SCV003855487 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-18 criteria provided, single submitter clinical testing The p.E2903K variant (also known as c.8707G>A), located in coding exon 20 of the BRCA2 gene, results from a G to A substitution at nucleotide position 8707. The glutamic acid at codon 2903 is replaced by lysine, an amino acid with similar properties. This alteration was identified in an individual diagnosed with ovarian cancer (Manguolu E et al. Cancer Genet Cytogenet, 2010 Dec;203:230-7). Of note, this alteration is also known as c.8935G>A in published literature. This amino acid position is well 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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