ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5660C>T (p.Thr1887Met) (rs397507795)

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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 RCV000129439 SCV000184209 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507337 SCV000600654 uncertain significance not specified 2016-10-10 criteria provided, single submitter clinical testing
Color RCV000129439 SCV000903741 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000507337 SCV000916944 uncertain significance not specified 2018-07-02 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.5660C>T (p.Thr1887Met) results in a non-conservative amino acid change located in the outside of any known domain or repeat of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.5e-05 in 244712 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.5660C>T has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer. These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrences with other pathogenic variant(s) have been reported (BRCA1 c.3640G>T , p.Glu1214X), providing supporting evidence for a benign role. At least one publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Sharing Clinical Reports Project (SCRP) RCV000239329 SCV000297540 uncertain significance Breast-ovarian cancer, familial 2 2014-06-19 no assertion criteria provided clinical testing

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