ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7390C>G (p.Gln2464Glu) (rs572945276)

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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 RCV000779962 SCV000916924 uncertain significance not specified 2017-10-16 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7390C>G (p.Gln2464Glu) 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 was found in 3/245888 control chromosomes (gnomAD) at a frequency of 0.0000125, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758946 SCV000887913 uncertain significance not provided 2017-10-16 criteria provided, single submitter clinical testing

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