ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7805+11C>A (rs1060504610)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000581131 SCV000683907 likely benign Hereditary cancer-predisposing syndrome 2016-04-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586049 SCV000695102 uncertain significance not provided 2017-08-24 criteria provided, single submitter clinical testing Variant summary: c.7805+11C>A in the BRCA2 gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict this variant does not affect a normal splicing pattern, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of gnomAD at frequency of 0.000008 (2/245950 chrs tested). The observed frequency does not exceed the maximum expected allele frequency for a pathogenic variant of 0.00075. The variant of interest has been cited by a clinical laboratory as Likely Benign. Taken together, the variant is classified as VUS-Possibly Benign until additional information becomes available.
Invitae RCV000463123 SCV000560390 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-11 criteria provided, single submitter clinical testing

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