ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3966C>G (p.Asn1322Lys) (rs80358647)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572841 SCV000666147 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000077317 SCV000146348 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781155 SCV000919027 uncertain significance not specified 2018-11-16 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.3966C>G (p.Asn1322Lys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.9e-06 in 224534 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3966C>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759607 SCV000889033 uncertain significance not provided 2018-02-07 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077317 SCV000109114 uncertain significance Breast-ovarian cancer, familial 2 2009-04-21 no assertion criteria provided clinical testing

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