ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7705G>A (p.Gly2569Ser)

dbSNP: rs1555286424
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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 RCV000509905 SCV000607933 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-03 criteria provided, single submitter clinical testing The p.G2569S variant (also known as c.7705G>A), located in coding exon 15 of the BRCA2 gene, results from a G to A substitution at nucleotide position 7705. The glycine at codon 2569 is replaced by serine, an amino acid with similar properties. This amino acid position is not 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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