ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4033_4035del (p.Asp1345del) (rs876660030)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218781 SCV000277106 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000484593 SCV000564773 uncertain significance not provided 2014-12-31 criteria provided, single submitter clinical testing This deletion of 3 nucleotides in BRCA2 is denoted c.4033_4035delGAT at the cDNA level and p.Asp1345del at the protein level. The normal sequence, with the bases that are deleted in brackets, is AAAT[GAT]ACTG. This in frame deletion of a single Aspartic Acid residue occurs at a position that is variable across mammals and is located in the linker region between BRC2 and BRC3 repeats and within a region that interacts with POLH (UniProt). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA2 Asp1345del to be a variant of uncertain significance.

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