ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6302dup (p.Asn2101fs) (rs397507839)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657367 SCV000779099 pathogenic not provided 2017-08-03 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.6302dupA at the cDNA level and p.Asn2101LysfsX10 (N2101KfsX10) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 6530dupA or 6530insA. The normal sequence, with the base that is duplicated in brackets, is CAAA[dupA]TGTA. The duplication causes a frameshift which changes an Asparagine to a Lysine at codon 2101, 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 protein truncation. We consider this variant to be pathogenic.

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