ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5596T>C (p.Phe1866Leu) (rs80358779)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165388 SCV000216115 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Integrated Genetics/Laboratory Corporation of America RCV000779923 SCV000916850 uncertain significance not specified 2018-11-15 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.5596T>C (p.Phe1866Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 241026 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.5596T>C has been reported in the literature with limited available information (Wagner_1999). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113447 SCV000146641 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing

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