ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3805_3807GTT[1] (p.Val1270del) (rs397507316)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228781 SCV000283218 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-13 criteria provided, single submitter clinical testing This variant, c.3808_3810delGTT, results in the deletion of 1 amino acid of the BRCA2 protein (p.Val1270del), 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: 37858). 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.
Ambry Genetics RCV000575888 SCV000673089 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Sharing Clinical Reports Project (SCRP) RCV000031439 SCV000054044 uncertain significance Breast-ovarian cancer, familial 2 2010-02-19 no assertion criteria provided clinical testing

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