ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8488-5T>C (rs533806629)

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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 RCV000213120 SCV000274989 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-14 criteria provided, single submitter clinical testing
Color RCV000213120 SCV000911019 likely benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000504448 SCV000593732 uncertain significance not specified 2016-06-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590772 SCV000695159 likely benign not provided 2016-05-20 criteria provided, single submitter clinical testing Variant summary: c.8488-5T>C in BRCA2 gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict this variant to not affect splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.0009 (15/121222 chrs tested) exclusively in individuals of South Asian descent, including 1 homozygous occurrence. The variant has not, to our knowledge, been reported in affected individuals via publications or reputable databases/clinical laboratories. Taken together the variant was classified as Likely benign until additional information becomes available.
Invitae RCV000548815 SCV000635664 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-04 criteria provided, single submitter clinical testing

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