ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9591del (p.Cys3198fs) (rs1555289787)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657481 SCV000779216 likely pathogenic not provided 2018-03-01 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.9591delC at the cDNA level and p.Cys3198ValfsX19 (C3198VfsX19) at the protein level. Using alternate nomenclature this variant would be defined as BRCA2 9819delC. The normal sequence, with the base that is deleted in brackets, is AAGA[delC]TGTA. The deletion causes a frameshift which changes a Cysteine to a Valine at codon 3198, and creates a premature stop codon at position 19 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. The disrupted region at the end of the gene includes the nuclear localization signals, RAD51 and Cyclin A binding domains, and residues that are phosphorylated by CDK1/2 and CHEK1/2 (Esashi 2005, Bahassi 2008, Borg 2010, Roy 2012). Based on currently available evidence, we consider this deletion to be a likely pathogenic variant.

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