ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5879_5881GTA[3] (p.Ser1961dup) (rs1026127409)

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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 RCV000569575 SCV000661310 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000485498 SCV000571005 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing This in-frame duplication of 3 nucleotides in BRCA2 is denoted c.5882_5884dupGTA at the cDNA level and p.Ser1961dup (S1961dup) at the protein level. Using alternate nomenclature, this variant would be defined as c.6110_6112dupGTA. The normal sequence, with the bases that are duplicated in braces, is TGTA[GTA]TAGG. This duplication of a single Serine residue occurs at a position that is not conserved across species and is located in the RAD51 binding domain (Roy 2012). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame duplications may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA2 Ser1961dup to be a variant of uncertain significance.

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