ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5284T>A (p.Tyr1762Asn) (rs1192019733)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586184 SCV000694853 uncertain significance not provided 2016-04-18 criteria provided, single submitter clinical testing Variant summary: The c.5284T>A variant in BRCA2 gene is a missense change that involves a non-conserved nucleotide and 2/4 in silico tools predicted benign outcome. The variant is absent in the control population dataset of ExAC. To our knowledge, it has not been previously reported in affected individuals via publications or cited in the databases. Taken together, the variant was classified as VUS until more data becomes available.

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