ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9936A>G (p.Ile3312Met) (rs80359255)

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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 RCV000165864 SCV000216613 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000165864 SCV000906967 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781148 SCV000919018 uncertain significance not specified 2018-10-22 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.9936A>G (p.Ile3312Met) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 246014 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.9936A>G has been reported in the literature, however, these reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112826 SCV000145735 uncertain significance Breast-ovarian cancer, familial 2 2001-03-30 no assertion criteria provided clinical testing

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