ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9606G>A (p.Pro3202=) (rs755890067)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164400 SCV000215036 likely benign Hereditary cancer-predisposing syndrome 2014-08-04 criteria provided, single submitter clinical testing
Color RCV000164400 SCV000906706 likely benign Hereditary cancer-predisposing syndrome 2017-09-05 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000504386 SCV000592295 likely benign not specified 2016-09-26 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495294 SCV000578579 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/).
Integrated Genetics/Laboratory Corporation of America RCV000589754 SCV000695256 uncertain significance not provided 2016-07-12 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9606G>A (p.Pro3202Pro) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing, but alterations to ESE binding, however, these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, ESP or 1000 Gs), nor has it been, to our knowledge, reported in affected individuals via publications. Multiple reputable databases/clinical laboratories cite the variant with conflicting classifications "uncertain significance" or "likely benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as a "VUS-possibly benign," until addtional information becomes available.
Invitae RCV000460818 SCV000560441 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000504386 SCV000600870 likely benign not specified 2017-05-17 criteria provided, single submitter clinical testing

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