ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2956_2958AAT[1] (p.Asn987del) (rs730881603)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160275 SCV000210728 uncertain significance not provided 2018-03-07 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in BRCA2 is denoted c.2959_2961delAAT at the cDNA level and p.Asn987del (N987del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AAAT[delAAT]GATT. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed in large population cohorts (Lek 2016). This deletion of a single Asparagine amino acid is not located in a known functional domain. In-silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time. We consider BRCA2 Asn987del to be a variant of uncertain significance.

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