ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4269T>C (p.Thr1423=) (rs786201377)

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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 RCV000163506 SCV000214064 likely benign Hereditary cancer-predisposing syndrome 2015-05-18 criteria provided, single submitter clinical testing
Color RCV000163506 SCV000683608 likely benign Hereditary cancer-predisposing syndrome 2017-02-09 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500105 SCV000591898 likely benign not specified 2014-02-20 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000494744 SCV000579133 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/).
Integrated Genetics/Laboratory Corporation of America RCV000586747 SCV000694759 uncertain significance not provided 2016-03-31 criteria provided, single submitter clinical testing Variant Summary: This variant involves the alteration of a non-conserved nucleotide resulting in a synonymous change. 5/5 in silico tools via Alamut predict no significant change on RNA splicing site and Mutation Taster predicts the variant to be a polymorphism. The variant was not observed in the population cohorts of the ExAC project, ESP, or 1000G and has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional impact by in vivo/vitro studies. One reputable clinical lab and database have classified the variant as polymorphism/likley benign. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS)- possibly benign variant until additional information becomes available.
Invitae RCV000234436 SCV000283236 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586747 SCV000887808 likely benign not provided 2018-06-29 criteria provided, single submitter clinical testing

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