ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2025A>G (p.Thr675=) (rs147381487)

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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 RCV000163141 SCV000213657 likely benign Hereditary cancer-predisposing syndrome 2014-12-15 criteria provided, single submitter clinical testing
Color RCV000163141 SCV000688739 likely benign Hereditary cancer-predisposing syndrome 2017-03-29 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000211008 SCV000578829 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 RCV000444788 SCV000512344 benign not specified 2015-05-13 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 RCV000589972 SCV000694589 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.2025A>G (p.Thr675Thr) 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. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/120336 control chromosomes at a frequency of 0.0000249, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000231746 SCV000283180 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-24 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000211008 SCV000267749 likely benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing

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