ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4600dup (p.Ile1534fs) (rs1555283867)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657400 SCV000779134 pathogenic not provided 2017-10-31 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.4600dupA at the cDNA level and p.Ile1534AsnfsX14 (I1534NfsX14) at the protein level. The normal sequence, with the base that is duplicated in brackets, is TAAA[dupA]TTGC. The duplication causes a frameshift which changes an Isoleucine to an Asparagine at codon 1534, and creates a premature stop codon at position 14 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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