ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3262_3263dup (p.Gln1089fs)

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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 RCV003187216 SCV003853754 pathogenic Hereditary cancer-predisposing syndrome 2023-01-11 criteria provided, single submitter clinical testing The c.3262_3263dupCC pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of CC at nucleotide position 3262, causing a translational frameshift with a predicted alternate stop codon (p.Q1089Lfs*16). 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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