ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8111delinsAGCAATAAAACTAGTAGTGCAGCTGAAACT (p.Ser2704Ter)

dbSNP: rs1593925106
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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 RCV001027193 SCV001189709 pathogenic Hereditary cancer-predisposing syndrome 2024-02-01 criteria provided, single submitter clinical testing The c.8111delCins30 pathogenic mutation, located in coding exon 17 of the BRCA2 gene, results from the deletion of one nucleotide and insertion of 30 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.S2704*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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