ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8124T>G (p.Thr2708=) (rs587780662)

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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) RCV000495618 SCV000578803 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/).
Invitae RCV000122933 SCV000166191 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163849 SCV000214435 likely benign Hereditary cancer-predisposing syndrome 2016-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000432204 SCV000520489 likely benign not specified 2018-02-27 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000432204 SCV000592174 likely benign not specified 2014-05-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000432204 SCV000602849 benign not specified 2016-12-28 criteria provided, single submitter clinical testing
Color RCV000163849 SCV000683944 likely benign Hereditary cancer-predisposing syndrome 2016-06-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590011 SCV000695130 uncertain significance not provided 2017-02-16 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8124T>G (p.Thr2708Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 121390 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign, without evidence for independent evaluation. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.

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