ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9617_9619dup (p.Ile3207_Ile3208insLys) (rs750833754)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000238886 SCV000296558 uncertain significance Breast-ovarian cancer, familial 2 2016-03-26 criteria provided, single submitter clinical testing
Invitae RCV000457898 SCV000549831 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-17 criteria provided, single submitter clinical testing This variant, c.9617_9619dupAAA, results in the insertion of 1 amino acid to the BRCA2 protein (p.Gln3206_Ile3207insLys), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs750833754, ExAC 0.003%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 252420). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the inserted 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.
Color RCV000775635 SCV000910002 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-12 criteria provided, single submitter clinical testing

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