ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2658_2659del (p.Asn886fs) (rs397507291)

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Total submissions: 5
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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) RCV000031377 SCV000300548 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000482987 SCV000569842 pathogenic not provided 2016-03-31 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA2 is denoted c.2658_2659delTG at the cDNA level and p.Asn886LysfsX3 (N886KfsX3) at the protein level. The normal sequence, with the bases that are deleted in braces, is ACAA[TG]AGAA. The deletion causes a frameshift which changes an Asparagine to a Lysine at codon 886, and creates a premature stop codon at position 3 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000482987 SCV001133720 pathogenic not provided 2019-02-14 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. Found in at least one symptomatic patient, and not found in general population data.
Ambry Genetics RCV001016231 SCV001177162 pathogenic Hereditary cancer-predisposing syndrome 2018-04-18 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Sharing Clinical Reports Project (SCRP) RCV000031377 SCV000053982 pathogenic Breast-ovarian cancer, familial 2 2009-05-05 no assertion criteria provided clinical testing

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