ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8719G>T (p.Ala2907Ser)

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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 RCV002373466 SCV002685265 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-27 criteria provided, single submitter clinical testing The p.A2907S variant (also known as c.8719G>T), located in coding exon 20 of the BRCA2 gene, results from a G to T substitution at nucleotide position 8719. The alanine at codon 2907 is replaced by serine, an amino acid with similar properties. 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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