ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7239A>G (p.Lys2413=) (rs763727386)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572188 SCV000661167 likely benign Hereditary cancer-predisposing syndrome 2015-07-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000572188 SCV000683858 likely benign Hereditary cancer-predisposing syndrome 2017-05-29 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000494785 SCV000579113 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 RCV000420763 SCV000518298 likely benign not specified 2017-07-18 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 RCV000420763 SCV000916980 uncertain significance not specified 2018-12-06 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.7239A>G alters a non-conserved nucleotide resulting in a synonymous change. Two out of five computational tools predict a significant impact on normal splicing: One predicts the variant creates a cryptic 5' donor site. One predicts the variant creates a cryptic 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 3.2e-05 in 277060 control chromosomes, predominantly at a frequency of 0.00033 within the African subpopulation in the gnomAD database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.7239A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Six ClinVar submissions from clinical diagnostic laboratories and reputable databases (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000200325 SCV000253034 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000420763 SCV000600739 likely benign not specified 2017-03-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758945 SCV000887907 likely benign not provided 2018-04-17 criteria provided, single submitter clinical testing

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