ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8499G>A (p.Lys2833=) (rs558819788)

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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 RCV000166960 SCV000217781 likely benign Hereditary cancer-predisposing syndrome 2014-11-28 criteria provided, single submitter clinical testing
Color RCV000166960 SCV000683972 likely benign Hereditary cancer-predisposing syndrome 2016-09-20 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000494874 SCV000578704 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 RCV000435633 SCV000512392 likely benign not specified 2017-01-04 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 RCV000435633 SCV000916833 uncertain significance not specified 2018-12-26 criteria provided, single submitter clinical testing Variant summary: The variant, BRCA2 c.8499G>A alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.4e-05 in 245932 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. A publication, Kwiatkowska_2002, reports the variant as a somatic occurrence in a male BrC patient. No experimental evidence demonstrating its impact on protein function have been reported. Four ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000537460 SCV000635666 likely benign Hereditary breast and ovarian cancer syndrome 2017-08-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759672 SCV000889155 likely benign not provided 2017-12-20 criteria provided, single submitter clinical testing

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