ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9309_9330dup (p.Glu3111delinsLysValLeuAspArgProTer) (rs1555289518)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661715 SCV000784021 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000482109 SCV000564801 pathogenic not provided 2015-02-11 criteria provided, single submitter clinical testing This duplication of 22 nucleotides in BRCA2 is denoted c.9309_9330dup22 at the cDNA level and p.Glu3111LysfsX7 (E3111KfsX7) at the protein level. The surrounding sequence is CAAT[dup22]GAGG. The duplication causes a frameshift, which changes a Glutamic Acid to a Lysine at codon 3111, and creates a premature stop codon at position 7 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.

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