ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6147_6149del (p.Val2050del) (rs779563857)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480848 SCV000566810 uncertain significance not provided 2015-06-02 criteria provided, single submitter clinical testing This deletion of 3 nucleotides in BRCA2 is denoted c.6147_6149delGGT at the cDNA level and p.Val2050del (V2050del) at the protein level. The normal sequence, with the bases that are deleted in braces, is ATGT[GGT]AAAT. This in frame deletion of a single Valine residue occurs at a position that is not conserved across species and is not located in a known functional domain. 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 Val2050del to be a variant of uncertain significance.

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