ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8755_8773dup (p.Gln2925delinsArgLeuPheGlnTer)

dbSNP: rs1593936493
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018277 SCV001179492 pathogenic Hereditary cancer-predisposing syndrome 2019-08-30 criteria provided, single submitter clinical testing The c.8755_8773dup19 variant, located in coding exon 21 of the BRCA2 gene, results from a duplication of GGTTATTTCAGTGAAGAGC at nucleotide position 8755, causing a translational frameshift with a predicted alternate stop codon (p.Q2925Rfs*5). 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.
Invitae RCV001214868 SCV001386573 pathogenic Hereditary breast ovarian cancer syndrome 2023-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 822708). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2925Argfs*5) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284591 SCV001470454 likely pathogenic not provided 2019-09-13 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality.

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