ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8694G>A (p.Leu2898=) (rs556762256)

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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 RCV000163941 SCV000214537 likely benign Hereditary cancer-predisposing syndrome 2014-11-20 criteria provided, single submitter clinical testing
Color RCV000163941 SCV000683992 likely benign Hereditary cancer-predisposing syndrome 2016-12-05 criteria provided, single submitter clinical testing
Counsyl RCV000410727 SCV000489662 likely benign Breast-ovarian cancer, familial 2 2016-11-02 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000410727 SCV000744546 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000410727 SCV000578761 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/).
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000410727 SCV000743350 likely benign Breast-ovarian cancer, familial 2 2016-06-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588872 SCV000695175 uncertain significance not provided 2017-07-03 criteria provided, single submitter clinical testing Variant summary: The c.8694G>A variant affects a conserved nucleotide, resulting in no amino acid change. One in-silico tool predicts damaging outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. ESE finder predicts that this variant may strengthen the ESE site of SRp40. However, these predictions are not confirmed by experimental studies. This variant is found in 10/120632 control chromosomes at a frequency of 0.0000829, which does not exceed maximal expected frequency of a pathogenic allele (0.0007503). In addition, multiple clinical laboratories classified this variant as benign/likely benign. Taken together, this variant was classified as VUS-possibly benign.
Invitae RCV000200006 SCV000253051 benign Hereditary breast and ovarian cancer syndrome 2017-11-16 criteria provided, single submitter clinical testing

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