ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4933_4935del (p.Lys1645del) (rs80359472)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563234 SCV000661260 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000563234 SCV000911397 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-19 criteria provided, single submitter clinical testing
Invitae RCV000547263 SCV000635414 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-02 criteria provided, single submitter clinical testing This variant, c.4933_4935delAAA, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Lys1645del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs761871715, ExAC 0.009%). This variant has been observed in an individual with a personal and/or family history of breast and/or ovarian cancer (PMID: 27553368). ClinVar contains an entry for this variant (Variation ID: 252422). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000238751 SCV000296560 uncertain significance Breast-ovarian cancer, familial 2 2016-03-12 criteria provided, single submitter clinical testing

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