ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5879_5881GTA[1] (p.Ser1961del) (rs1026127409)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000583882 SCV000688952 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589374 SCV000694912 uncertain significance not provided 2016-05-02 criteria provided, single submitter clinical testing Variant summary: The c.5882_5884delGTA involves the deletion of 3 nucleotides, resulting in an in frame deletion of amino acid change Ser. Mutation taster predicts disease-causing outcome for this variant. This variant is not found in 120970 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000475701 SCV000549681 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-06-26 criteria provided, single submitter clinical testing This variant, c.5882_5884delGTA, results in the deletion of 1 amino acid of the BRCA2 protein (p.Ser1961del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 409520). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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