ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2412A>G (p.Glu804=) (rs587780866)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163719 SCV000214293 likely benign Hereditary cancer-predisposing syndrome 2014-07-31 criteria provided, single submitter clinical testing
Color RCV000163719 SCV000688753 likely benign Hereditary cancer-predisposing syndrome 2017-09-13 criteria provided, single submitter clinical testing
Counsyl RCV000495335 SCV000785297 likely benign Breast-ovarian cancer, familial 2 2017-06-30 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000123952 SCV000591807 likely benign not specified 2014-08-08 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495335 SCV000579000 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/).
GeneDx RCV000123952 SCV000167343 benign not specified 2014-02-20 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.
Integrated Genetics/Laboratory Corporation of America RCV000587995 SCV000694605 uncertain significance not provided 2016-04-14 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.2412A>G variant affects a non-conserved nucleotide, resulting in no amino acid change. Mutation Taster predicts a benign outcome for this variant, and 4/5 Alamut algorithms predict no significant change to splicing. This variant was not found in 120450 control chromosomes, but was identified in one contralateral breast cancer patient in the literature without evidence of causality (i.e. co-segregation data). In addition, the variant was found to co-occur with a whole BRCA1 deletion in one internal LCA specimen. Moreover, multiple clinical laboratories classified this variant as benign/likely benign. Taken together, this variant was classified as a VUS-possibly-benign.
Invitae RCV000204239 SCV000261242 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000123952 SCV000600510 likely benign not specified 2017-04-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587995 SCV000887773 likely benign not provided 2017-04-17 criteria provided, single submitter clinical testing

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