ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2192_2196del (p.Glu731fs) (rs1064793627)

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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) RCV000661556 SCV000783848 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 RCV000483926 SCV000566642 pathogenic not provided 2015-05-22 criteria provided, single submitter clinical testing This deletion of 5 nucleotides in BRCA2 is denoted c.2192_2196delAAGAG at the cDNA level and p.Glu731GlyfsX18 (E731GfsX18) at the protein level. The normal sequence, with the bases that are deleted in braces, is AAAG[AAGAG]GTCT. The deletion causes a frameshift, which changes a Glutamic Acid to a Glycine at codon 731, and creates a premature stop codon at position 18 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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