ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.*14C>T (rs373436334)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444840 SCV000512407 benign not specified 2015-05-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000444840 SCV000602828 likely benign not specified 2016-11-17 criteria provided, single submitter clinical testing
Color RCV000579951 SCV000683387 likely benign Hereditary cancer-predisposing syndrome 2016-04-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586705 SCV000694484 uncertain significance not provided 2016-12-30 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.*14C>T located in the 3' UTR alters a non-conserved nucleotide. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 3/116256 (1/38759), which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333. 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.

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