ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5483A>G (p.Lys1828Arg) (rs879255459)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781067 SCV000918871 uncertain significance not specified 2017-09-19 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5483A>G (p.Lys1828Arg) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant is absent in 245980 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Sharing Clinical Reports Project (SCRP) RCV000239105 SCV000297442 uncertain significance Breast-ovarian cancer, familial 2 2013-05-28 no assertion criteria provided clinical testing

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