ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.161dup (p.Asn54fs) (rs878853297)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657500 SCV000779235 pathogenic not provided 2018-04-02 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.161dupA at the cDNA level and p.Asn54LysfsX10 (N54KfsX10) at the protein level. Using alternate nomenclature this variant would be defined as BRCA2 389dupA. The normal sequence, with the base that is duplicated in brackets, is TAAAA[dupA]CAAC. The duplication causes a frameshift which changes an Asparagine to a Lysine at codon 54, and creates a premature stop codon at position 10 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 RCV000637673 SCV000759143 pathogenic Hereditary breast and ovarian cancer syndrome 2017-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn54Lysfs*10) 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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