ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9075dup (p.Gln3026fs)

dbSNP: rs2072910192
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222786 SCV001394902 pathogenic Hereditary breast ovarian cancer syndrome 2019-08-07 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln3026Thrfs*18) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BRCA2-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
Ambry Genetics RCV002375211 SCV002684665 pathogenic Hereditary cancer-predisposing syndrome 2020-12-21 criteria provided, single submitter clinical testing The c.9075dupA pathogenic mutation, located in coding exon 22 of the BRCA2 gene, results from a duplication of A at nucleotide position 9075, causing a translational frameshift with a predicted alternate stop codon (p.Q3026Tfs*18). 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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