ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8667A>G (p.Ala2889=) (rs786203480)

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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 RCV000166799 SCV000217613 likely benign Hereditary cancer-predisposing syndrome 2014-11-09 criteria provided, single submitter clinical testing
Color RCV000166799 SCV000911812 likely benign Hereditary cancer-predisposing syndrome 2018-02-05 criteria provided, single submitter clinical testing
Counsyl RCV000411426 SCV000489359 likely benign Breast-ovarian cancer, familial 2 2016-09-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779980 SCV000916959 uncertain significance not specified 2017-11-09 criteria provided, single submitter clinical testing Variant summary: The c.8667A>G (p.Ala2889=) in BRCA2 is a synonymous change that involves a non-conserved nucleotide. 3/5 programs in Alamut predict that this variant does not affect a normal splicing pattern, however no functional studies supporting these predictions were published at the time of the evaluation. The variant is absent from the control dataset of gnomAD (~277124 chrs tested). The variant of interest has not, to our knowledge, been reported in affected individuals via published reports, but is cited as Likely Benign by reputable databases/clinical laboratories. Taken together, the variant was classified as VUS-Possibly Benign.
Invitae RCV000469075 SCV000560506 likely benign Hereditary breast and ovarian cancer syndrome 2016-05-03 criteria provided, single submitter clinical testing

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