ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3021_3022dup (p.Ser1008fs)

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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 RCV004602389 SCV005097574 pathogenic Hereditary cancer-predisposing syndrome 2024-06-12 criteria provided, single submitter clinical testing The c.3021_3022dupTA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of TA at nucleotide position 3021, causing a translational frameshift with a predicted alternate stop codon (p.S1008Ifs*36). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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