ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3822G>A (p.Lys1274=) (rs1555283410)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563441 SCV000673121 likely benign Hereditary cancer-predisposing syndrome 2017-02-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000563441 SCV000913038 likely benign Hereditary cancer-predisposing syndrome 2018-10-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590381 SCV000694721 uncertain significance not provided 2016-03-10 criteria provided, single submitter clinical testing Variant summary: The c.3822G>A in BRCA2 gene alters a non-conserved nucleotide and results in a synonymous change. Mutation taster predicts a neutral outcome for this change and 4/5 in silico tools via Alamut predict have some effect on the normal splicing, however these predictions are yet to be confirmed experimentally. The variant is absent from the large and broad cohorts of the NHLBI-ES and ExAC projects; it has not, to our knowledge, been reported in HBOC patients either, and in vivo/vitro studies to describe the functional impact of the variant were not reported in the literature at the time of evaluation. Based on the translational impact and the physical location of the variant it was classified as a Variant of Uncertain Significance - Possibly Benign.

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