ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6423T>G (p.Gly2141=) (rs780721021)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502553 SCV000593751 uncertain significance not specified 2015-10-23 criteria provided, single submitter clinical testing
Invitae RCV000812649 SCV000952969 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-29 criteria provided, single submitter clinical testing This sequence change affects codon 2141 of the BRCA2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRCA2 protein. This variant is present in population databases (rs780721021, ExAC 0.01%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 434532). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985565 SCV001133863 uncertain significance not provided 2019-08-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000502553 SCV001361754 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing

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