ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2585A>G (p.Lys862Arg) (rs876659257)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222976 SCV000275504 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589742 SCV000694612 uncertain significance not provided 2016-07-12 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.2585A>G (p.Lys862Arg) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). Lys862 is not located in a known functional domain of the Breast cancer type 2 susceptibility protein, is not highly conserved across species, and an Arg residue is found at this position in chicken. This variant was absent in 120148 control chromosomes, and has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. In addition, one clinical diagnostic laboratory classified this variant as a VUS. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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