ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7140T>C (p.His2380=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771404 SCV000903756 likely benign Hereditary cancer-predisposing syndrome 2018-03-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780003 SCV000916991 uncertain significance not specified 2018-08-27 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.7140T>C alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 246128 control chromosomes (gnomAD and publication). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.7140T>C, has been reported in the literature in two individuals affected with Hereditary Breast and Ovarian Cancer but also in controls (Loizidou_2007). This report does 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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