ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9329dup (p.Asn3110fs) (rs1405341259)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000773037 SCV000906419 pathogenic Hereditary cancer-predisposing syndrome 2018-06-04 criteria provided, single submitter clinical testing
GeneDx RCV000657431 SCV000779166 pathogenic not provided 2018-11-02 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.9329dupA at the cDNA level and p.Asn3110LysfsX2 (N3110KfsX2) at the protein level. The normal sequence, with the base that is duplicated in brackets, is CTTA[dupA]TGAG. The duplication causes a frameshift which changes an Asparagine to a Lysine at codon 3110, and creates a premature stop codon at position 2 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Invitae RCV000685143 SCV000812616 pathogenic Hereditary breast and ovarian cancer syndrome 2018-04-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn3110Lysfs*2) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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