ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4858T>C (p.Leu1620=) (rs528771743)

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Total submissions: 8
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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) RCV000411484 SCV000579092 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 RCV000165017 SCV000215712 likely benign Hereditary cancer-predisposing syndrome 2014-07-23 criteria provided, single submitter clinical testing
Counsyl RCV000411484 SCV000487962 likely benign Breast-ovarian cancer, familial 2 2015-12-10 criteria provided, single submitter clinical testing
Invitae RCV000539392 SCV000635411 likely benign Hereditary breast and ovarian cancer syndrome 2017-04-06 criteria provided, single submitter clinical testing
Color RCV000165017 SCV000688901 likely benign Hereditary cancer-predisposing syndrome 2017-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000604499 SCV000694808 likely benign not specified 2019-03-04 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.4858T>C 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 8.1e-06 in 245428 control chromosomes. 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.4858T>C in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
GeneDx RCV000604499 SCV000729408 likely benign not specified 2017-02-03 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985534 SCV001133812 likely benign not provided 2018-08-30 criteria provided, single submitter clinical testing

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