ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3555A>G (p.Thr1185=) (rs876659609)

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Total submissions: 4
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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) RCV000495470 SCV000578986 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 RCV000223324 SCV000276257 likely benign Hereditary cancer-predisposing syndrome 2015-06-04 criteria provided, single submitter clinical testing
Invitae RCV000474668 SCV000549715 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-12-08 criteria provided, single submitter clinical testing This sequence change affects codon 1185 of the BRCA2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRCA2 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 232193). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Color RCV000223324 SCV000688816 likely benign Hereditary cancer-predisposing syndrome 2017-04-11 criteria provided, single submitter clinical testing

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