ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5379T>C (p.Asn1793=) (rs146917776)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495498 SCV000578943 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics RCV000165169 SCV000215881 likely benign Hereditary cancer-predisposing syndrome 2014-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000443852 SCV000525408 likely benign not specified 2017-06-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000458013 SCV000560457 likely benign not provided 2018-12-08 criteria provided, single submitter clinical testing
Color RCV000165169 SCV000683700 likely benign Hereditary cancer-predisposing syndrome 2016-12-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000443852 SCV000916889 likely benign not specified 2017-11-03 criteria provided, single submitter clinical testing Variant summary: The c.5379T>C (p.Asn1793=) in BRCA2 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is absent from control datasets of ExAC and gnomAD (120870 and 245910chrs tested, respectively). The variant of interest has not, to our knowledge, been reported in affected individuals via published reports, but is sited as Likely Benign by multiple reputable databases/clinical laboratories. Lastly, an internal sample reports a co-occurrence with BRCA2 c.5653delT. For these reasons, the variant was classified as Likely Benign.

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